Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
Community
ID
stringlengths
13
17
question
stringlengths
88
1.13k
answer
stringlengths
6
156
reference_sequence
stringlengths
4.1k
4.1k
variant_sequence
stringlengths
4.1k
4.1k
Task1_train_30200
A sequence alteration has been identified in EFNB1 (ephrin B1) on Chromosome X. Is it disease-inducing or harmless?
Pathogenic; not provided
TCCTGCTCTGAGAGCCTGTCTCCAATGGGATGAAACCCACCCTGCTTGCTGTGACCCTTGAAGCCTTTCAGTCTGGCCCCAGGTGAACTTTTCACCTCTTCTTCTGTTTCTCTCTTCTCACTCCCAGCCAAGCTGGACCAATCACTGGCCTGGGCTTTGTGTTGTAGCCACTGCTGTCTACTGTCTCAGTGTGTTGACTTCTTATTCCTCACCTAAGACCCACTTTCATCCTGCCTTTCCTGTGGATACATCTCTGACCATCCTGGTCAGATGAGCTATCTCTTTCTTCTCCCTGCCTCCAGCCCTTGCTGCTTGAATCATCATCCTCACACATACCTACAGATAGCCTGGTGTTGTCTATCACTCGAGTATGGGTTATTTACTTTTCTGACCCAAACTGGACAGTAAAGTCCTTGACGATGGAGCCATATCTTCTCTTCCTGTTTCCCCTCCAAAATATGAGAGTGAGCTCATAGGTACTTAGTGTTAGTATCTGACCTCCTGCCTCTTGGGAGACTGCTTCTAAGAGGCAGTCAAACATGTTGAACGCCTATTGTGTGCTAGGTGTTCTCCATGTGCTGCCTTGTCTCCCCACCACAATATTGGAAGGTAGGGGCTCTTGCCACCCCCACTTTACAAGAGAAGAAACTGAAGCTCAGAACAGGCAGCTCATCCAAGGTCACAGAGTTAGTAAGGGCCTAGCTTTGGAATCTGATTCTAAAGTCTGTGTTCTTTCTCCTACATGGTTCTGCCTTGCTCTCAGCACCAGCCCATCCAGTCTCAGAAATGGCCAATGGAGCACCATTTTCTTTCTGTGTGCTTAGGCAAGGACAGAGTCCTATGGATAGGTGGTCCTGGGCTGCTGACCCTCCCTGCTGTCCCCCAGTGCCTGGCCTTCTGGATTAGAATATGAACCTGGCTCAAAAGGCATTTGTCCATCTCCTCTCAGGAGCTGGAGTAGGAGCAACATAGAGGTGACAGGTTAGGATACAGATGAGGCCCTATCTTCTATGATCTGTTGTCTCTGGTTGAGCCCCTTCTCTTCTCCTCTGTTCTTTTTAAGAATGAGATGAATCAAGTTTAGGAATTCAGGCTCTTGCATTTTGAGGGTGGGATGAATTGCCAGTAGGACAATAGGCAGTGGGAGTGAGCAGAGCTGCACCTGGCCAGAGACTGTGGCCATCATCCCTTTGCTCCAGGCGATGCCTGTTCCTATCTTTCCATCATGACCAAGATTAGTAAGGATGGGGGAGAAGACATGGGTCCCAGACAGATTGAGCTCCCCCAGCCTTTGGCTGGGAGCTGCGGGGAGTGGTGACTAAGACATGTGTGGGCTTGCTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCACGTGTGTATGGGTATAGGAGAGGTAGTAGCAGCGGTCATGAAGGAATCTTTGTTGGGGGTGGGGGTATATAAGACTGCCACCTCCAGGTAGCATGGGCCTGACACCTTGGTACCCAGCCCATTGGCCACGTCAGCCCCCTGCGGAAATGCCACATTAGGACAAAGGGCTCCCCCAGCCAGGCAGTGCTCCACCCTGCCGAGCAGTCAGAGCCTGGCAGCCTTGCCCATGGGCCACCCCTTCCACACTCTCCTGGTAGTGTGGTTCTCTCTCCCCACCCCCAGCCTGAGGATGGAGGAAGGGCAGAAGGCTTGCTCTTGCCATCTCCACCCAGTAGGCCCAGCCCGGCTCTTGTCCGCTTCCCTGGTTCTGGAATGGCCTGGGGCCACCCCCAACCCTGAGGCTGACCATCTTCTTCCTTCTGGGCAGGTTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTGGAGACAAGCTGGACATCATCTGCCCCCGAGCAGAAGCAGGGCGGCCCTATGAGTACTACAAGCTGTACCTGGTGCGGCCTGAGCAGGCAGCTGCCTGTAGCACAGTTCTCGACCCCAACGTGTTGGTCACCTGCAATAGGCCAGAGCAGGAAATACGCTTTACCATCAAGTTCCAGGAGTTCAGCCCCAACTACATGGGCCTGGAGTTCAAGAAGCACCATGATTACTACATTACCTGTGAGTCCCGCCCATCCCATCCTCTGGCTCTCTCCCTGGGCTTAACTCTTTCCTCTCCTGTAGTAGTGGGAGCTTCTAAGTGGTGCAATGCTATTGCATGTAGTTAAGACCCTGCTGGATCTGATCCCCTTTGAAGACTGGCATGTTCTCCTCTTAGCCTGGCCTTGGAATTCTCGCCCCAACATTTACCAAGCTCACCTTGGCTCCAGGGGTTGGGCAGGAGAGGTCTCCAATTCGTGTTGCTTCTCTCTTATTTTCTTTGCCCACCTAAGTTCTAATATTGGGAATGGTAACATATGCCAGGCCCTTTGGGATCAGCCAGCTATTCAGCCTTTTTCTTCAGGGGAAACCAAGGCCCCAAAAGGTGAAGGGACTTCTTGCCTTAGATCACACAGTGAGTTAGAGATAGGGTCAGGACTCCAACCCAGTTCTCCTGATTCCTACTCCAGAATTCCTTTCAGTCTATGTAGAAGCCCCCATTATGATCCCAGTGAGGAGGCAGACCTTACCGAGGGGCCATGGCCTGCTCGTGACAGAGGAGCAGTGCCCCTGGGGGTGGGGCTTGTTCTTGGCCTGGGCTGGACTAGGCCATTTTGTTCCTAGTGGGAGGGAAGAAAATGAAAAGGTTCACTGGTAGATGGGAGCTGCTTGCTTCTCCCGACTGCAGTTTCTCTCCCTGTTGGCTGAAGCAGAATGGGAGTTTCTGGGTAATGCTAGTAGACCTTTCTCTCCTCCTGACTTCTCTGACTTCTCTGGCCTCTTCCTGCAGCAACATCCAATGGAAGCCTGGAGGGGCTGGAAAACCGGGAGGGCGGTGTGTGCCGCACACGCACCATGAAGATCATCATGAAGGTTGGGCAAGGTGAGTGCCTAGTCTGAGGGTCCCCTCACCCCACCCTGTTTGACCTTTGGAACAGATGTTCCTGGCTGGGTGCATGTGTATTAGGAGTGGGGGAGCAGGCGTAGGGTTACAGTATCCAGGCCATTCTTGGCCCACCCTTGATGACTGAGGGCACCTATGCTGGCCGGGTCCCTGCCTCTCACCTGTTCTGTCTCCATTCTTAGATCCCAATGCTGTGACGCCTGAGCAGCTGACTACCAGCAGGCCCAGCAAGGAGGCAGACAACACTGTCAAGATGGCCACACAGGCCCCTGGTAGTCGGGGCTCCCTGGGTGACTCTGATGGCAAGCATGGTAAGTGTATGTGTTTCCCAGAGGTCAGGAGCCATTGCTCTGTCACCTTGTTAGGCCCTGTCCCTGAAGAAATGCAAGCTGGGCCTGGCCTGAAATCTGCTGTGTGTCCCTGGGACCCCTGGCTGACTGTTCCTTCCCCTTTCCCTTCCTCAGAGACTGTGAACCAGGAAGAGAAGAGTGGCCCAGGTGCAAGTGGGGGCAGCAGCGGGGACCCTGATGGCTTCTTCAACTCCAAGGTGGCATTGTTCGCGGCTGTCGGTGCCGGTTGCGTCATCTTCCTGCTCATCATCATCTTCCTGACGGTCCTACTACTGAAGCTACGCAAGCGGCACCGCAAGCACACACAGCAGCGGGCGGCTGCCCTCTCGCTCAGTACCCTGGCCAGTCCCAAGGGGGGCAGTGGCACAGCGGGCACCGAGCCCAGCGACATCATCATTCCCTTACGGACTACAGAGAACAACTACTGCCCCCACTATGAGAAGGTGAGTGGGGACTACGGGCACCCTGTCTACATCGTCCAAGAGATGCCGCCCCAGAGCCCGGCGAACATCTACTACAAGGTCTGAGTGCCCGGCACGGCCTCAGGCCCCCGAGGGACAGTCGGCCTGGACCGGACCTCTCCTTTCGCCCCCACACCCCCTCCCCTTGCCAGCTGTGCCCACCTTTGTATTTAGTTTTGTAGTTTCTTGGCTTTTATAATCCCCCTTTTTCCCTGCCCCCTGGGCTTCGGAGGGGGGTGCTTGTGCCCCTAACCCCCATGCTCTTGTGCCTTCCCCCTCTGGCCAG
TCCTGCTCTGAGAGCCTGTCTCCAATGGGATGAAACCCACCCTGCTTGCTGTGACCCTTGAAGCCTTTCAGTCTGGCCCCAGGTGAACTTTTCACCTCTTCTTCTGTTTCTCTCTTCTCACTCCCAGCCAAGCTGGACCAATCACTGGCCTGGGCTTTGTGTTGTAGCCACTGCTGTCTACTGTCTCAGTGTGTTGACTTCTTATTCCTCACCTAAGACCCACTTTCATCCTGCCTTTCCTGTGGATACATCTCTGACCATCCTGGTCAGATGAGCTATCTCTTTCTTCTCCCTGCCTCCAGCCCTTGCTGCTTGAATCATCATCCTCACACATACCTACAGATAGCCTGGTGTTGTCTATCACTCGAGTATGGGTTATTTACTTTTCTGACCCAAACTGGACAGTAAAGTCCTTGACGATGGAGCCATATCTTCTCTTCCTGTTTCCCCTCCAAAATATGAGAGTGAGCTCATAGGTACTTAGTGTTAGTATCTGACCTCCTGCCTCTTGGGAGACTGCTTCTAAGAGGCAGTCAAACATGTTGAACGCCTATTGTGTGCTAGGTGTTCTCCATGTGCTGCCTTGTCTCCCCACCACAATATTGGAAGGTAGGGGCTCTTGCCACCCCCACTTTACAAGAGAAGAAACTGAAGCTCAGAACAGGCAGCTCATCCAAGGTCACAGAGTTAGTAAGGGCCTAGCTTTGGAATCTGATTCTAAAGTCTGTGTTCTTTCTCCTACATGGTTCTGCCTTGCTCTCAGCACCAGCCCATCCAGTCTCAGAAATGGCCAATGGAGCACCATTTTCTTTCTGTGTGCTTAGGCAAGGACAGAGTCCTATGGATAGGTGGTCCTGGGCTGCTGACCCTCCCTGCTGTCCCCCAGTGCCTGGCCTTCTGGATTAGAATATGAACCTGGCTCAAAAGGCATTTGTCCATCTCCTCTCAGGAGCTGGAGTAGGAGCAACATAGAGGTGACAGGTTAGGATACAGATGAGGCCCTATCTTCTATGATCTGTTGTCTCTGGTTGAGCCCCTTCTCTTCTCCTCTGTTCTTTTTAAGAATGAGATGAATCAAGTTTAGGAATTCAGGCTCTTGCATTTTGAGGGTGGGATGAATTGCCAGTAGGACAATAGGCAGTGGGAGTGAGCAGAGCTGCACCTGGCCAGAGACTGTGGCCATCATCCCTTTGCTCCAGGCGATGCCTGTTCCTATCTTTCCATCATGACCAAGATTAGTAAGGATGGGGGAGAAGACATGGGTCCCAGACAGATTGAGCTCCCCCAGCCTTTGGCTGGGAGCTGCGGGGAGTGGTGACTAAGACATGTGTGGGCTTGCTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCACGTGTGTATGGGTATAGGAGAGGTAGTAGCAGCGGTCATGAAGGAATCTTTGTTGGGGGTGGGGGTATATAAGACTGCCACCTCCAGGTAGCATGGGCCTGACACCTTGGTACCCAGCCCATTGGCCACGTCAGCCCCCTGCGGAAATGCCACATTAGGACAAAGGGCTCCCCCAGCCAGGCAGTGCTCCACCCTGCCGAGCAGTCAGAGCCTGGCAGCCTTGCCCATGGGCCACCCCTTCCACACTCTCCTGGTAGTGTGGTTCTCTCTCCCCACCCCCAGCCTGAGGATGGAGGAAGGGCAGAAGGCTTGCTCTTGCCATCTCCACCCAGTAGGCCCAGCCCGGCTCTTGTCCGCTTCCCTGGTTCTGGAATGGCCTGGGGCCACCCCCAACCCTGAGGCTGACCATCTTCTTCCTTCTGGGCAGGTTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTGGAGACAAGCTGGACATCATCTGCCCCCGAGCAGAAGCAGGGCGGCCCTATGAGTACTACAAGCTGTACCTGGTGCGGCCTGAGCAGGCAGCTGCCTGTAGCACAGTTCTCGACCCCAACGTGTTGGTCACCTGCAATAGGCCAGAGCAGGAAATACGCTTTACCATCAACTTCCAGGAGTTCAGCCCCAACTACATGGGCCTGGAGTTCAAGAAGCACCATGATTACTACATTACCTGTGAGTCCCGCCCATCCCATCCTCTGGCTCTCTCCCTGGGCTTAACTCTTTCCTCTCCTGTAGTAGTGGGAGCTTCTAAGTGGTGCAATGCTATTGCATGTAGTTAAGACCCTGCTGGATCTGATCCCCTTTGAAGACTGGCATGTTCTCCTCTTAGCCTGGCCTTGGAATTCTCGCCCCAACATTTACCAAGCTCACCTTGGCTCCAGGGGTTGGGCAGGAGAGGTCTCCAATTCGTGTTGCTTCTCTCTTATTTTCTTTGCCCACCTAAGTTCTAATATTGGGAATGGTAACATATGCCAGGCCCTTTGGGATCAGCCAGCTATTCAGCCTTTTTCTTCAGGGGAAACCAAGGCCCCAAAAGGTGAAGGGACTTCTTGCCTTAGATCACACAGTGAGTTAGAGATAGGGTCAGGACTCCAACCCAGTTCTCCTGATTCCTACTCCAGAATTCCTTTCAGTCTATGTAGAAGCCCCCATTATGATCCCAGTGAGGAGGCAGACCTTACCGAGGGGCCATGGCCTGCTCGTGACAGAGGAGCAGTGCCCCTGGGGGTGGGGCTTGTTCTTGGCCTGGGCTGGACTAGGCCATTTTGTTCCTAGTGGGAGGGAAGAAAATGAAAAGGTTCACTGGTAGATGGGAGCTGCTTGCTTCTCCCGACTGCAGTTTCTCTCCCTGTTGGCTGAAGCAGAATGGGAGTTTCTGGGTAATGCTAGTAGACCTTTCTCTCCTCCTGACTTCTCTGACTTCTCTGGCCTCTTCCTGCAGCAACATCCAATGGAAGCCTGGAGGGGCTGGAAAACCGGGAGGGCGGTGTGTGCCGCACACGCACCATGAAGATCATCATGAAGGTTGGGCAAGGTGAGTGCCTAGTCTGAGGGTCCCCTCACCCCACCCTGTTTGACCTTTGGAACAGATGTTCCTGGCTGGGTGCATGTGTATTAGGAGTGGGGGAGCAGGCGTAGGGTTACAGTATCCAGGCCATTCTTGGCCCACCCTTGATGACTGAGGGCACCTATGCTGGCCGGGTCCCTGCCTCTCACCTGTTCTGTCTCCATTCTTAGATCCCAATGCTGTGACGCCTGAGCAGCTGACTACCAGCAGGCCCAGCAAGGAGGCAGACAACACTGTCAAGATGGCCACACAGGCCCCTGGTAGTCGGGGCTCCCTGGGTGACTCTGATGGCAAGCATGGTAAGTGTATGTGTTTCCCAGAGGTCAGGAGCCATTGCTCTGTCACCTTGTTAGGCCCTGTCCCTGAAGAAATGCAAGCTGGGCCTGGCCTGAAATCTGCTGTGTGTCCCTGGGACCCCTGGCTGACTGTTCCTTCCCCTTTCCCTTCCTCAGAGACTGTGAACCAGGAAGAGAAGAGTGGCCCAGGTGCAAGTGGGGGCAGCAGCGGGGACCCTGATGGCTTCTTCAACTCCAAGGTGGCATTGTTCGCGGCTGTCGGTGCCGGTTGCGTCATCTTCCTGCTCATCATCATCTTCCTGACGGTCCTACTACTGAAGCTACGCAAGCGGCACCGCAAGCACACACAGCAGCGGGCGGCTGCCCTCTCGCTCAGTACCCTGGCCAGTCCCAAGGGGGGCAGTGGCACAGCGGGCACCGAGCCCAGCGACATCATCATTCCCTTACGGACTACAGAGAACAACTACTGCCCCCACTATGAGAAGGTGAGTGGGGACTACGGGCACCCTGTCTACATCGTCCAAGAGATGCCGCCCCAGAGCCCGGCGAACATCTACTACAAGGTCTGAGTGCCCGGCACGGCCTCAGGCCCCCGAGGGACAGTCGGCCTGGACCGGACCTCTCCTTTCGCCCCCACACCCCCTCCCCTTGCCAGCTGTGCCCACCTTTGTATTTAGTTTTGTAGTTTCTTGGCTTTTATAATCCCCCTTTTTCCCTGCCCCCTGGGCTTCGGAGGGGGGTGCTTGTGCCCCTAACCCCCATGCTCTTGTGCCTTCCCCCTCTGGCCAG
Task1_train_30201
This alteration occurs within gene EFNB1 (ephrin B1) located on Chromosome X. Is it associated with a disease or is it a benign variant?
Pathogenic; Craniofrontonasal syndrome
CCCAGTGCCTGGCCTTCTGGATTAGAATATGAACCTGGCTCAAAAGGCATTTGTCCATCTCCTCTCAGGAGCTGGAGTAGGAGCAACATAGAGGTGACAGGTTAGGATACAGATGAGGCCCTATCTTCTATGATCTGTTGTCTCTGGTTGAGCCCCTTCTCTTCTCCTCTGTTCTTTTTAAGAATGAGATGAATCAAGTTTAGGAATTCAGGCTCTTGCATTTTGAGGGTGGGATGAATTGCCAGTAGGACAATAGGCAGTGGGAGTGAGCAGAGCTGCACCTGGCCAGAGACTGTGGCCATCATCCCTTTGCTCCAGGCGATGCCTGTTCCTATCTTTCCATCATGACCAAGATTAGTAAGGATGGGGGAGAAGACATGGGTCCCAGACAGATTGAGCTCCCCCAGCCTTTGGCTGGGAGCTGCGGGGAGTGGTGACTAAGACATGTGTGGGCTTGCTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCACGTGTGTATGGGTATAGGAGAGGTAGTAGCAGCGGTCATGAAGGAATCTTTGTTGGGGGTGGGGGTATATAAGACTGCCACCTCCAGGTAGCATGGGCCTGACACCTTGGTACCCAGCCCATTGGCCACGTCAGCCCCCTGCGGAAATGCCACATTAGGACAAAGGGCTCCCCCAGCCAGGCAGTGCTCCACCCTGCCGAGCAGTCAGAGCCTGGCAGCCTTGCCCATGGGCCACCCCTTCCACACTCTCCTGGTAGTGTGGTTCTCTCTCCCCACCCCCAGCCTGAGGATGGAGGAAGGGCAGAAGGCTTGCTCTTGCCATCTCCACCCAGTAGGCCCAGCCCGGCTCTTGTCCGCTTCCCTGGTTCTGGAATGGCCTGGGGCCACCCCCAACCCTGAGGCTGACCATCTTCTTCCTTCTGGGCAGGTTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTGGAGACAAGCTGGACATCATCTGCCCCCGAGCAGAAGCAGGGCGGCCCTATGAGTACTACAAGCTGTACCTGGTGCGGCCTGAGCAGGCAGCTGCCTGTAGCACAGTTCTCGACCCCAACGTGTTGGTCACCTGCAATAGGCCAGAGCAGGAAATACGCTTTACCATCAAGTTCCAGGAGTTCAGCCCCAACTACATGGGCCTGGAGTTCAAGAAGCACCATGATTACTACATTACCTGTGAGTCCCGCCCATCCCATCCTCTGGCTCTCTCCCTGGGCTTAACTCTTTCCTCTCCTGTAGTAGTGGGAGCTTCTAAGTGGTGCAATGCTATTGCATGTAGTTAAGACCCTGCTGGATCTGATCCCCTTTGAAGACTGGCATGTTCTCCTCTTAGCCTGGCCTTGGAATTCTCGCCCCAACATTTACCAAGCTCACCTTGGCTCCAGGGGTTGGGCAGGAGAGGTCTCCAATTCGTGTTGCTTCTCTCTTATTTTCTTTGCCCACCTAAGTTCTAATATTGGGAATGGTAACATATGCCAGGCCCTTTGGGATCAGCCAGCTATTCAGCCTTTTTCTTCAGGGGAAACCAAGGCCCCAAAAGGTGAAGGGACTTCTTGCCTTAGATCACACAGTGAGTTAGAGATAGGGTCAGGACTCCAACCCAGTTCTCCTGATTCCTACTCCAGAATTCCTTTCAGTCTATGTAGAAGCCCCCATTATGATCCCAGTGAGGAGGCAGACCTTACCGAGGGGCCATGGCCTGCTCGTGACAGAGGAGCAGTGCCCCTGGGGGTGGGGCTTGTTCTTGGCCTGGGCTGGACTAGGCCATTTTGTTCCTAGTGGGAGGGAAGAAAATGAAAAGGTTCACTGGTAGATGGGAGCTGCTTGCTTCTCCCGACTGCAGTTTCTCTCCCTGTTGGCTGAAGCAGAATGGGAGTTTCTGGGTAATGCTAGTAGACCTTTCTCTCCTCCTGACTTCTCTGACTTCTCTGGCCTCTTCCTGCAGCAACATCCAATGGAAGCCTGGAGGGGCTGGAAAACCGGGAGGGCGGTGTGTGCCGCACACGCACCATGAAGATCATCATGAAGGTTGGGCAAGGTGAGTGCCTAGTCTGAGGGTCCCCTCACCCCACCCTGTTTGACCTTTGGAACAGATGTTCCTGGCTGGGTGCATGTGTATTAGGAGTGGGGGAGCAGGCGTAGGGTTACAGTATCCAGGCCATTCTTGGCCCACCCTTGATGACTGAGGGCACCTATGCTGGCCGGGTCCCTGCCTCTCACCTGTTCTGTCTCCATTCTTAGATCCCAATGCTGTGACGCCTGAGCAGCTGACTACCAGCAGGCCCAGCAAGGAGGCAGACAACACTGTCAAGATGGCCACACAGGCCCCTGGTAGTCGGGGCTCCCTGGGTGACTCTGATGGCAAGCATGGTAAGTGTATGTGTTTCCCAGAGGTCAGGAGCCATTGCTCTGTCACCTTGTTAGGCCCTGTCCCTGAAGAAATGCAAGCTGGGCCTGGCCTGAAATCTGCTGTGTGTCCCTGGGACCCCTGGCTGACTGTTCCTTCCCCTTTCCCTTCCTCAGAGACTGTGAACCAGGAAGAGAAGAGTGGCCCAGGTGCAAGTGGGGGCAGCAGCGGGGACCCTGATGGCTTCTTCAACTCCAAGGTGGCATTGTTCGCGGCTGTCGGTGCCGGTTGCGTCATCTTCCTGCTCATCATCATCTTCCTGACGGTCCTACTACTGAAGCTACGCAAGCGGCACCGCAAGCACACACAGCAGCGGGCGGCTGCCCTCTCGCTCAGTACCCTGGCCAGTCCCAAGGGGGGCAGTGGCACAGCGGGCACCGAGCCCAGCGACATCATCATTCCCTTACGGACTACAGAGAACAACTACTGCCCCCACTATGAGAAGGTGAGTGGGGACTACGGGCACCCTGTCTACATCGTCCAAGAGATGCCGCCCCAGAGCCCGGCGAACATCTACTACAAGGTCTGAGTGCCCGGCACGGCCTCAGGCCCCCGAGGGACAGTCGGCCTGGACCGGACCTCTCCTTTCGCCCCCACACCCCCTCCCCTTGCCAGCTGTGCCCACCTTTGTATTTAGTTTTGTAGTTTCTTGGCTTTTATAATCCCCCTTTTTCCCTGCCCCCTGGGCTTCGGAGGGGGGTGCTTGTGCCCCTAACCCCCATGCTCTTGTGCCTTCCCCCTCTGGCCAGGCCTCTGGGCTCCGTGGGGGCGCCCCTTCTTGGAAGGCAGGGCTGGACACTGATGGACAGCAGGCAGGGAGACAGTCCCCTGGCCCTGCCCCTCCCTCGCCCCCCTTGCCACCTTCCCAGGACTGCTTGTCCGCTATCATCACTGTTTTTAATGCTTTTGTGTTCATTTTTTAGCTGTCAACTCATTTTCATCTGTTTTTTGAAGAAAAATGGAAAAATGTAAAAGGCAGCCCCTCCCCAGGCTTTGTGAGCCTGGCCCAAGCCAGTACAAGAGGGCCTGGGGCACGATGTGGTCAGCCAGGAAGCATAGGATGCCATTTCTTTTATAGATTCCTTGGTATTTCTGGTGGGGTAAGGGGCAGGCCAGGGCTGTTCACGCCCATGAGGGAAGAGGAAAGTGCCACTGGGCAAGGTGTCCCACCCTCCCCTCCTGACCCTCCTACGAGGCTTATCCTGGCAATGGGGTAGTCACTGCCACCCTTCCACACACACACACACACACACACACACAAAAAAAAATCCCTTCCTTGTGGGATTCTTGGGCATCTCCTGCCTCCCTCACTCTCACGGTAATTAATGTCTTAATTGGCTGTTGCCTGGGGAACAGGAGAGCTGCTGCAGGCAGATGACCTCATGGGGGGTGGAGGGAGGTGAGGTGCCCAGGTGGCTATTTGCCCTGCAGAGCTGGGAGTTTCACCCCCACCCCCCACCCTGTTCTCTCCTTACCTTTGGCATCCTTTGGCCTGGTGGGGAAACAGAGGCCCAGGGTGGAGACCTAAGCGGGTATAAGACCAGGTGGCCTGCTCCTTTTCTGGGCCCTAGCACAGGTGGGTAACCCCCACCCAACCCAGCTCCTGCTGCTGTCCCAGTCTTGGGCTGGG
CCCAGTGCCTGGCCTTCTGGATTAGAATATGAACCTGGCTCAAAAGGCATTTGTCCATCTCCTCTCAGGAGCTGGAGTAGGAGCAACATAGAGGTGACAGGTTAGGATACAGATGAGGCCCTATCTTCTATGATCTGTTGTCTCTGGTTGAGCCCCTTCTCTTCTCCTCTGTTCTTTTTAAGAATGAGATGAATCAAGTTTAGGAATTCAGGCTCTTGCATTTTGAGGGTGGGATGAATTGCCAGTAGGACAATAGGCAGTGGGAGTGAGCAGAGCTGCACCTGGCCAGAGACTGTGGCCATCATCCCTTTGCTCCAGGCGATGCCTGTTCCTATCTTTCCATCATGACCAAGATTAGTAAGGATGGGGGAGAAGACATGGGTCCCAGACAGATTGAGCTCCCCCAGCCTTTGGCTGGGAGCTGCGGGGAGTGGTGACTAAGACATGTGTGGGCTTGCTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCACGTGTGTATGGGTATAGGAGAGGTAGTAGCAGCGGTCATGAAGGAATCTTTGTTGGGGGTGGGGGTATATAAGACTGCCACCTCCAGGTAGCATGGGCCTGACACCTTGGTACCCAGCCCATTGGCCACGTCAGCCCCCTGCGGAAATGCCACATTAGGACAAAGGGCTCCCCCAGCCAGGCAGTGCTCCACCCTGCCGAGCAGTCAGAGCCTGGCAGCCTTGCCCATGGGCCACCCCTTCCACACTCTCCTGGTAGTGTGGTTCTCTCTCCCCACCCCCAGCCTGAGGATGGAGGAAGGGCAGAAGGCTTGCTCTTGCCATCTCCACCCAGTAGGCCCAGCCCGGCTCTTGTCCGCTTCCCTGGTTCTGGAATGGCCTGGGGCCACCCCCAACCCTGAGGCTGACCATCTTCTTCCTTCTGGGCAGGTTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTGGAGACAAGCTGGACATCATCTGCCCCCGAGCAGAAGCAGGGCGGCCCTATGAGTACTACAAGCTGTACCTGGTGCGGCCTGAGCAGGCAGCTGCCTGTAGCACAGTTCTCGACCCCAACGTGTTGGTCACCTGCAATAGGCCAGAGCAGGAAATACGCTTTACCATCAAGTTCCAGGAGTTCAGCCCCAACTACATGGGCCTGGAGTTCAAGAAGCACCATGATTACTACATTACCTGTGAGTCCCGCCCATCCCATCCTCTGGCTCTCTCCCTGGGCTTAACTCTTTCCTCTCCTGTAGTAGTGGGAGCTTCTAAGTGGTGCAATGCTATTGCATGTAGTTAAGACCCTGCTGGATCTGATCCCCTTTGAAGACTGGCATGTTCTCCTCTTAGCCTGGCCTTGGAATTCTCGCCCCAACATTTACCAAGCTCACCTTGGCTCCAGGGGTTGGGCAGGAGAGGTCTCCAATTCGTGTTGCTTCTCTCTTATTTTCTTTGCCCACCTAAGTTCTAATATTGGGAATGGTAACATATGCCAGGCCCTTTGGGATCAGCCAGCTATTCAGCCTTTTTCTTCAGGGGAAACCAAGGCCCCAAAAGGTGAAGGGACTTCTTGCCTTAGATCACACAGTGAGTTAGAGATAGGGTCAGGACTCCAACCCAGTTCTCCTGATTCCTACTCCAGAATTCCTTTCAGTCTATGTAGAAGCCCCCATTATGATCCCAGTGAGGAGGCAGACCTTACCGAGGGGCCATGGCCTGCTCGTGACAGAGGAGCAGTGCCCCTGGGGGTGGGGCTTGTTCTTGGCCTGGGCTGGACTAGGCCATTTTGTTCCTAGTGGGAGGGAAGAAAATGAAAAGGTTCACTGGTAGATGGGAGCTGCTTGCTTCTCCCGACTGCAGTTTCTCTCCCTGTTGGCTGAAGCAGAATGGGAGTTTCTGGGTAATGCTAGTAGACCTTTCTCTCCTCCTGACTTCTCTGACTTCTCTGGCCTCTTCCTGCAGCAACATCCAATGGAAGCCTGGAGGGGCTGGAAAACCGGGAGGGCAGTGTGTGCCGCACACGCACCATGAAGATCATCATGAAGGTTGGGCAAGGTGAGTGCCTAGTCTGAGGGTCCCCTCACCCCACCCTGTTTGACCTTTGGAACAGATGTTCCTGGCTGGGTGCATGTGTATTAGGAGTGGGGGAGCAGGCGTAGGGTTACAGTATCCAGGCCATTCTTGGCCCACCCTTGATGACTGAGGGCACCTATGCTGGCCGGGTCCCTGCCTCTCACCTGTTCTGTCTCCATTCTTAGATCCCAATGCTGTGACGCCTGAGCAGCTGACTACCAGCAGGCCCAGCAAGGAGGCAGACAACACTGTCAAGATGGCCACACAGGCCCCTGGTAGTCGGGGCTCCCTGGGTGACTCTGATGGCAAGCATGGTAAGTGTATGTGTTTCCCAGAGGTCAGGAGCCATTGCTCTGTCACCTTGTTAGGCCCTGTCCCTGAAGAAATGCAAGCTGGGCCTGGCCTGAAATCTGCTGTGTGTCCCTGGGACCCCTGGCTGACTGTTCCTTCCCCTTTCCCTTCCTCAGAGACTGTGAACCAGGAAGAGAAGAGTGGCCCAGGTGCAAGTGGGGGCAGCAGCGGGGACCCTGATGGCTTCTTCAACTCCAAGGTGGCATTGTTCGCGGCTGTCGGTGCCGGTTGCGTCATCTTCCTGCTCATCATCATCTTCCTGACGGTCCTACTACTGAAGCTACGCAAGCGGCACCGCAAGCACACACAGCAGCGGGCGGCTGCCCTCTCGCTCAGTACCCTGGCCAGTCCCAAGGGGGGCAGTGGCACAGCGGGCACCGAGCCCAGCGACATCATCATTCCCTTACGGACTACAGAGAACAACTACTGCCCCCACTATGAGAAGGTGAGTGGGGACTACGGGCACCCTGTCTACATCGTCCAAGAGATGCCGCCCCAGAGCCCGGCGAACATCTACTACAAGGTCTGAGTGCCCGGCACGGCCTCAGGCCCCCGAGGGACAGTCGGCCTGGACCGGACCTCTCCTTTCGCCCCCACACCCCCTCCCCTTGCCAGCTGTGCCCACCTTTGTATTTAGTTTTGTAGTTTCTTGGCTTTTATAATCCCCCTTTTTCCCTGCCCCCTGGGCTTCGGAGGGGGGTGCTTGTGCCCCTAACCCCCATGCTCTTGTGCCTTCCCCCTCTGGCCAGGCCTCTGGGCTCCGTGGGGGCGCCCCTTCTTGGAAGGCAGGGCTGGACACTGATGGACAGCAGGCAGGGAGACAGTCCCCTGGCCCTGCCCCTCCCTCGCCCCCCTTGCCACCTTCCCAGGACTGCTTGTCCGCTATCATCACTGTTTTTAATGCTTTTGTGTTCATTTTTTAGCTGTCAACTCATTTTCATCTGTTTTTTGAAGAAAAATGGAAAAATGTAAAAGGCAGCCCCTCCCCAGGCTTTGTGAGCCTGGCCCAAGCCAGTACAAGAGGGCCTGGGGCACGATGTGGTCAGCCAGGAAGCATAGGATGCCATTTCTTTTATAGATTCCTTGGTATTTCTGGTGGGGTAAGGGGCAGGCCAGGGCTGTTCACGCCCATGAGGGAAGAGGAAAGTGCCACTGGGCAAGGTGTCCCACCCTCCCCTCCTGACCCTCCTACGAGGCTTATCCTGGCAATGGGGTAGTCACTGCCACCCTTCCACACACACACACACACACACACACACAAAAAAAAATCCCTTCCTTGTGGGATTCTTGGGCATCTCCTGCCTCCCTCACTCTCACGGTAATTAATGTCTTAATTGGCTGTTGCCTGGGGAACAGGAGAGCTGCTGCAGGCAGATGACCTCATGGGGGGTGGAGGGAGGTGAGGTGCCCAGGTGGCTATTTGCCCTGCAGAGCTGGGAGTTTCACCCCCACCCCCCACCCTGTTCTCTCCTTACCTTTGGCATCCTTTGGCCTGGTGGGGAAACAGAGGCCCAGGGTGGAGACCTAAGCGGGTATAAGACCAGGTGGCCTGCTCCTTTTCTGGGCCCTAGCACAGGTGGGTAACCCCCACCCAACCCAGCTCCTGCTGCTGTCCCAGTCTTGGGCTGGG
Task1_train_30202
An alteration has been detected in EFNB1 (ephrin B1) on Chromosome X. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Craniofrontonasal syndrome
CCAGTGCCTGGCCTTCTGGATTAGAATATGAACCTGGCTCAAAAGGCATTTGTCCATCTCCTCTCAGGAGCTGGAGTAGGAGCAACATAGAGGTGACAGGTTAGGATACAGATGAGGCCCTATCTTCTATGATCTGTTGTCTCTGGTTGAGCCCCTTCTCTTCTCCTCTGTTCTTTTTAAGAATGAGATGAATCAAGTTTAGGAATTCAGGCTCTTGCATTTTGAGGGTGGGATGAATTGCCAGTAGGACAATAGGCAGTGGGAGTGAGCAGAGCTGCACCTGGCCAGAGACTGTGGCCATCATCCCTTTGCTCCAGGCGATGCCTGTTCCTATCTTTCCATCATGACCAAGATTAGTAAGGATGGGGGAGAAGACATGGGTCCCAGACAGATTGAGCTCCCCCAGCCTTTGGCTGGGAGCTGCGGGGAGTGGTGACTAAGACATGTGTGGGCTTGCTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCACGTGTGTATGGGTATAGGAGAGGTAGTAGCAGCGGTCATGAAGGAATCTTTGTTGGGGGTGGGGGTATATAAGACTGCCACCTCCAGGTAGCATGGGCCTGACACCTTGGTACCCAGCCCATTGGCCACGTCAGCCCCCTGCGGAAATGCCACATTAGGACAAAGGGCTCCCCCAGCCAGGCAGTGCTCCACCCTGCCGAGCAGTCAGAGCCTGGCAGCCTTGCCCATGGGCCACCCCTTCCACACTCTCCTGGTAGTGTGGTTCTCTCTCCCCACCCCCAGCCTGAGGATGGAGGAAGGGCAGAAGGCTTGCTCTTGCCATCTCCACCCAGTAGGCCCAGCCCGGCTCTTGTCCGCTTCCCTGGTTCTGGAATGGCCTGGGGCCACCCCCAACCCTGAGGCTGACCATCTTCTTCCTTCTGGGCAGGTTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTGGAGACAAGCTGGACATCATCTGCCCCCGAGCAGAAGCAGGGCGGCCCTATGAGTACTACAAGCTGTACCTGGTGCGGCCTGAGCAGGCAGCTGCCTGTAGCACAGTTCTCGACCCCAACGTGTTGGTCACCTGCAATAGGCCAGAGCAGGAAATACGCTTTACCATCAAGTTCCAGGAGTTCAGCCCCAACTACATGGGCCTGGAGTTCAAGAAGCACCATGATTACTACATTACCTGTGAGTCCCGCCCATCCCATCCTCTGGCTCTCTCCCTGGGCTTAACTCTTTCCTCTCCTGTAGTAGTGGGAGCTTCTAAGTGGTGCAATGCTATTGCATGTAGTTAAGACCCTGCTGGATCTGATCCCCTTTGAAGACTGGCATGTTCTCCTCTTAGCCTGGCCTTGGAATTCTCGCCCCAACATTTACCAAGCTCACCTTGGCTCCAGGGGTTGGGCAGGAGAGGTCTCCAATTCGTGTTGCTTCTCTCTTATTTTCTTTGCCCACCTAAGTTCTAATATTGGGAATGGTAACATATGCCAGGCCCTTTGGGATCAGCCAGCTATTCAGCCTTTTTCTTCAGGGGAAACCAAGGCCCCAAAAGGTGAAGGGACTTCTTGCCTTAGATCACACAGTGAGTTAGAGATAGGGTCAGGACTCCAACCCAGTTCTCCTGATTCCTACTCCAGAATTCCTTTCAGTCTATGTAGAAGCCCCCATTATGATCCCAGTGAGGAGGCAGACCTTACCGAGGGGCCATGGCCTGCTCGTGACAGAGGAGCAGTGCCCCTGGGGGTGGGGCTTGTTCTTGGCCTGGGCTGGACTAGGCCATTTTGTTCCTAGTGGGAGGGAAGAAAATGAAAAGGTTCACTGGTAGATGGGAGCTGCTTGCTTCTCCCGACTGCAGTTTCTCTCCCTGTTGGCTGAAGCAGAATGGGAGTTTCTGGGTAATGCTAGTAGACCTTTCTCTCCTCCTGACTTCTCTGACTTCTCTGGCCTCTTCCTGCAGCAACATCCAATGGAAGCCTGGAGGGGCTGGAAAACCGGGAGGGCGGTGTGTGCCGCACACGCACCATGAAGATCATCATGAAGGTTGGGCAAGGTGAGTGCCTAGTCTGAGGGTCCCCTCACCCCACCCTGTTTGACCTTTGGAACAGATGTTCCTGGCTGGGTGCATGTGTATTAGGAGTGGGGGAGCAGGCGTAGGGTTACAGTATCCAGGCCATTCTTGGCCCACCCTTGATGACTGAGGGCACCTATGCTGGCCGGGTCCCTGCCTCTCACCTGTTCTGTCTCCATTCTTAGATCCCAATGCTGTGACGCCTGAGCAGCTGACTACCAGCAGGCCCAGCAAGGAGGCAGACAACACTGTCAAGATGGCCACACAGGCCCCTGGTAGTCGGGGCTCCCTGGGTGACTCTGATGGCAAGCATGGTAAGTGTATGTGTTTCCCAGAGGTCAGGAGCCATTGCTCTGTCACCTTGTTAGGCCCTGTCCCTGAAGAAATGCAAGCTGGGCCTGGCCTGAAATCTGCTGTGTGTCCCTGGGACCCCTGGCTGACTGTTCCTTCCCCTTTCCCTTCCTCAGAGACTGTGAACCAGGAAGAGAAGAGTGGCCCAGGTGCAAGTGGGGGCAGCAGCGGGGACCCTGATGGCTTCTTCAACTCCAAGGTGGCATTGTTCGCGGCTGTCGGTGCCGGTTGCGTCATCTTCCTGCTCATCATCATCTTCCTGACGGTCCTACTACTGAAGCTACGCAAGCGGCACCGCAAGCACACACAGCAGCGGGCGGCTGCCCTCTCGCTCAGTACCCTGGCCAGTCCCAAGGGGGGCAGTGGCACAGCGGGCACCGAGCCCAGCGACATCATCATTCCCTTACGGACTACAGAGAACAACTACTGCCCCCACTATGAGAAGGTGAGTGGGGACTACGGGCACCCTGTCTACATCGTCCAAGAGATGCCGCCCCAGAGCCCGGCGAACATCTACTACAAGGTCTGAGTGCCCGGCACGGCCTCAGGCCCCCGAGGGACAGTCGGCCTGGACCGGACCTCTCCTTTCGCCCCCACACCCCCTCCCCTTGCCAGCTGTGCCCACCTTTGTATTTAGTTTTGTAGTTTCTTGGCTTTTATAATCCCCCTTTTTCCCTGCCCCCTGGGCTTCGGAGGGGGGTGCTTGTGCCCCTAACCCCCATGCTCTTGTGCCTTCCCCCTCTGGCCAGGCCTCTGGGCTCCGTGGGGGCGCCCCTTCTTGGAAGGCAGGGCTGGACACTGATGGACAGCAGGCAGGGAGACAGTCCCCTGGCCCTGCCCCTCCCTCGCCCCCCTTGCCACCTTCCCAGGACTGCTTGTCCGCTATCATCACTGTTTTTAATGCTTTTGTGTTCATTTTTTAGCTGTCAACTCATTTTCATCTGTTTTTTGAAGAAAAATGGAAAAATGTAAAAGGCAGCCCCTCCCCAGGCTTTGTGAGCCTGGCCCAAGCCAGTACAAGAGGGCCTGGGGCACGATGTGGTCAGCCAGGAAGCATAGGATGCCATTTCTTTTATAGATTCCTTGGTATTTCTGGTGGGGTAAGGGGCAGGCCAGGGCTGTTCACGCCCATGAGGGAAGAGGAAAGTGCCACTGGGCAAGGTGTCCCACCCTCCCCTCCTGACCCTCCTACGAGGCTTATCCTGGCAATGGGGTAGTCACTGCCACCCTTCCACACACACACACACACACACACACACAAAAAAAAATCCCTTCCTTGTGGGATTCTTGGGCATCTCCTGCCTCCCTCACTCTCACGGTAATTAATGTCTTAATTGGCTGTTGCCTGGGGAACAGGAGAGCTGCTGCAGGCAGATGACCTCATGGGGGGTGGAGGGAGGTGAGGTGCCCAGGTGGCTATTTGCCCTGCAGAGCTGGGAGTTTCACCCCCACCCCCCACCCTGTTCTCTCCTTACCTTTGGCATCCTTTGGCCTGGTGGGGAAACAGAGGCCCAGGGTGGAGACCTAAGCGGGTATAAGACCAGGTGGCCTGCTCCTTTTCTGGGCCCTAGCACAGGTGGGTAACCCCCACCCAACCCAGCTCCTGCTGCTGTCCCAGTCTTGGGCTGGGG
CCAGTGCCTGGCCTTCTGGATTAGAATATGAACCTGGCTCAAAAGGCATTTGTCCATCTCCTCTCAGGAGCTGGAGTAGGAGCAACATAGAGGTGACAGGTTAGGATACAGATGAGGCCCTATCTTCTATGATCTGTTGTCTCTGGTTGAGCCCCTTCTCTTCTCCTCTGTTCTTTTTAAGAATGAGATGAATCAAGTTTAGGAATTCAGGCTCTTGCATTTTGAGGGTGGGATGAATTGCCAGTAGGACAATAGGCAGTGGGAGTGAGCAGAGCTGCACCTGGCCAGAGACTGTGGCCATCATCCCTTTGCTCCAGGCGATGCCTGTTCCTATCTTTCCATCATGACCAAGATTAGTAAGGATGGGGGAGAAGACATGGGTCCCAGACAGATTGAGCTCCCCCAGCCTTTGGCTGGGAGCTGCGGGGAGTGGTGACTAAGACATGTGTGGGCTTGCTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCACGTGTGTATGGGTATAGGAGAGGTAGTAGCAGCGGTCATGAAGGAATCTTTGTTGGGGGTGGGGGTATATAAGACTGCCACCTCCAGGTAGCATGGGCCTGACACCTTGGTACCCAGCCCATTGGCCACGTCAGCCCCCTGCGGAAATGCCACATTAGGACAAAGGGCTCCCCCAGCCAGGCAGTGCTCCACCCTGCCGAGCAGTCAGAGCCTGGCAGCCTTGCCCATGGGCCACCCCTTCCACACTCTCCTGGTAGTGTGGTTCTCTCTCCCCACCCCCAGCCTGAGGATGGAGGAAGGGCAGAAGGCTTGCTCTTGCCATCTCCACCCAGTAGGCCCAGCCCGGCTCTTGTCCGCTTCCCTGGTTCTGGAATGGCCTGGGGCCACCCCCAACCCTGAGGCTGACCATCTTCTTCCTTCTGGGCAGGTTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTGGAGACAAGCTGGACATCATCTGCCCCCGAGCAGAAGCAGGGCGGCCCTATGAGTACTACAAGCTGTACCTGGTGCGGCCTGAGCAGGCAGCTGCCTGTAGCACAGTTCTCGACCCCAACGTGTTGGTCACCTGCAATAGGCCAGAGCAGGAAATACGCTTTACCATCAAGTTCCAGGAGTTCAGCCCCAACTACATGGGCCTGGAGTTCAAGAAGCACCATGATTACTACATTACCTGTGAGTCCCGCCCATCCCATCCTCTGGCTCTCTCCCTGGGCTTAACTCTTTCCTCTCCTGTAGTAGTGGGAGCTTCTAAGTGGTGCAATGCTATTGCATGTAGTTAAGACCCTGCTGGATCTGATCCCCTTTGAAGACTGGCATGTTCTCCTCTTAGCCTGGCCTTGGAATTCTCGCCCCAACATTTACCAAGCTCACCTTGGCTCCAGGGGTTGGGCAGGAGAGGTCTCCAATTCGTGTTGCTTCTCTCTTATTTTCTTTGCCCACCTAAGTTCTAATATTGGGAATGGTAACATATGCCAGGCCCTTTGGGATCAGCCAGCTATTCAGCCTTTTTCTTCAGGGGAAACCAAGGCCCCAAAAGGTGAAGGGACTTCTTGCCTTAGATCACACAGTGAGTTAGAGATAGGGTCAGGACTCCAACCCAGTTCTCCTGATTCCTACTCCAGAATTCCTTTCAGTCTATGTAGAAGCCCCCATTATGATCCCAGTGAGGAGGCAGACCTTACCGAGGGGCCATGGCCTGCTCGTGACAGAGGAGCAGTGCCCCTGGGGGTGGGGCTTGTTCTTGGCCTGGGCTGGACTAGGCCATTTTGTTCCTAGTGGGAGGGAAGAAAATGAAAAGGTTCACTGGTAGATGGGAGCTGCTTGCTTCTCCCGACTGCAGTTTCTCTCCCTGTTGGCTGAAGCAGAATGGGAGTTTCTGGGTAATGCTAGTAGACCTTTCTCTCCTCCTGACTTCTCTGACTTCTCTGGCCTCTTCCTGCAGCAACATCCAATGGAAGCCTGGAGGGGCTGGAAAACCGGGAGGGCGTTGTGTGCCGCACACGCACCATGAAGATCATCATGAAGGTTGGGCAAGGTGAGTGCCTAGTCTGAGGGTCCCCTCACCCCACCCTGTTTGACCTTTGGAACAGATGTTCCTGGCTGGGTGCATGTGTATTAGGAGTGGGGGAGCAGGCGTAGGGTTACAGTATCCAGGCCATTCTTGGCCCACCCTTGATGACTGAGGGCACCTATGCTGGCCGGGTCCCTGCCTCTCACCTGTTCTGTCTCCATTCTTAGATCCCAATGCTGTGACGCCTGAGCAGCTGACTACCAGCAGGCCCAGCAAGGAGGCAGACAACACTGTCAAGATGGCCACACAGGCCCCTGGTAGTCGGGGCTCCCTGGGTGACTCTGATGGCAAGCATGGTAAGTGTATGTGTTTCCCAGAGGTCAGGAGCCATTGCTCTGTCACCTTGTTAGGCCCTGTCCCTGAAGAAATGCAAGCTGGGCCTGGCCTGAAATCTGCTGTGTGTCCCTGGGACCCCTGGCTGACTGTTCCTTCCCCTTTCCCTTCCTCAGAGACTGTGAACCAGGAAGAGAAGAGTGGCCCAGGTGCAAGTGGGGGCAGCAGCGGGGACCCTGATGGCTTCTTCAACTCCAAGGTGGCATTGTTCGCGGCTGTCGGTGCCGGTTGCGTCATCTTCCTGCTCATCATCATCTTCCTGACGGTCCTACTACTGAAGCTACGCAAGCGGCACCGCAAGCACACACAGCAGCGGGCGGCTGCCCTCTCGCTCAGTACCCTGGCCAGTCCCAAGGGGGGCAGTGGCACAGCGGGCACCGAGCCCAGCGACATCATCATTCCCTTACGGACTACAGAGAACAACTACTGCCCCCACTATGAGAAGGTGAGTGGGGACTACGGGCACCCTGTCTACATCGTCCAAGAGATGCCGCCCCAGAGCCCGGCGAACATCTACTACAAGGTCTGAGTGCCCGGCACGGCCTCAGGCCCCCGAGGGACAGTCGGCCTGGACCGGACCTCTCCTTTCGCCCCCACACCCCCTCCCCTTGCCAGCTGTGCCCACCTTTGTATTTAGTTTTGTAGTTTCTTGGCTTTTATAATCCCCCTTTTTCCCTGCCCCCTGGGCTTCGGAGGGGGGTGCTTGTGCCCCTAACCCCCATGCTCTTGTGCCTTCCCCCTCTGGCCAGGCCTCTGGGCTCCGTGGGGGCGCCCCTTCTTGGAAGGCAGGGCTGGACACTGATGGACAGCAGGCAGGGAGACAGTCCCCTGGCCCTGCCCCTCCCTCGCCCCCCTTGCCACCTTCCCAGGACTGCTTGTCCGCTATCATCACTGTTTTTAATGCTTTTGTGTTCATTTTTTAGCTGTCAACTCATTTTCATCTGTTTTTTGAAGAAAAATGGAAAAATGTAAAAGGCAGCCCCTCCCCAGGCTTTGTGAGCCTGGCCCAAGCCAGTACAAGAGGGCCTGGGGCACGATGTGGTCAGCCAGGAAGCATAGGATGCCATTTCTTTTATAGATTCCTTGGTATTTCTGGTGGGGTAAGGGGCAGGCCAGGGCTGTTCACGCCCATGAGGGAAGAGGAAAGTGCCACTGGGCAAGGTGTCCCACCCTCCCCTCCTGACCCTCCTACGAGGCTTATCCTGGCAATGGGGTAGTCACTGCCACCCTTCCACACACACACACACACACACACACACAAAAAAAAATCCCTTCCTTGTGGGATTCTTGGGCATCTCCTGCCTCCCTCACTCTCACGGTAATTAATGTCTTAATTGGCTGTTGCCTGGGGAACAGGAGAGCTGCTGCAGGCAGATGACCTCATGGGGGGTGGAGGGAGGTGAGGTGCCCAGGTGGCTATTTGCCCTGCAGAGCTGGGAGTTTCACCCCCACCCCCCACCCTGTTCTCTCCTTACCTTTGGCATCCTTTGGCCTGGTGGGGAAACAGAGGCCCAGGGTGGAGACCTAAGCGGGTATAAGACCAGGTGGCCTGCTCCTTTTCTGGGCCCTAGCACAGGTGGGTAACCCCCACCCAACCCAGCTCCTGCTGCTGTCCCAGTCTTGGGCTGGGG
Task1_train_30203
A genomic change on Chromosome X affects EFNB1 (ephrin B1). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; not provided
TTAGAATATGAACCTGGCTCAAAAGGCATTTGTCCATCTCCTCTCAGGAGCTGGAGTAGGAGCAACATAGAGGTGACAGGTTAGGATACAGATGAGGCCCTATCTTCTATGATCTGTTGTCTCTGGTTGAGCCCCTTCTCTTCTCCTCTGTTCTTTTTAAGAATGAGATGAATCAAGTTTAGGAATTCAGGCTCTTGCATTTTGAGGGTGGGATGAATTGCCAGTAGGACAATAGGCAGTGGGAGTGAGCAGAGCTGCACCTGGCCAGAGACTGTGGCCATCATCCCTTTGCTCCAGGCGATGCCTGTTCCTATCTTTCCATCATGACCAAGATTAGTAAGGATGGGGGAGAAGACATGGGTCCCAGACAGATTGAGCTCCCCCAGCCTTTGGCTGGGAGCTGCGGGGAGTGGTGACTAAGACATGTGTGGGCTTGCTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCACGTGTGTATGGGTATAGGAGAGGTAGTAGCAGCGGTCATGAAGGAATCTTTGTTGGGGGTGGGGGTATATAAGACTGCCACCTCCAGGTAGCATGGGCCTGACACCTTGGTACCCAGCCCATTGGCCACGTCAGCCCCCTGCGGAAATGCCACATTAGGACAAAGGGCTCCCCCAGCCAGGCAGTGCTCCACCCTGCCGAGCAGTCAGAGCCTGGCAGCCTTGCCCATGGGCCACCCCTTCCACACTCTCCTGGTAGTGTGGTTCTCTCTCCCCACCCCCAGCCTGAGGATGGAGGAAGGGCAGAAGGCTTGCTCTTGCCATCTCCACCCAGTAGGCCCAGCCCGGCTCTTGTCCGCTTCCCTGGTTCTGGAATGGCCTGGGGCCACCCCCAACCCTGAGGCTGACCATCTTCTTCCTTCTGGGCAGGTTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTGGAGACAAGCTGGACATCATCTGCCCCCGAGCAGAAGCAGGGCGGCCCTATGAGTACTACAAGCTGTACCTGGTGCGGCCTGAGCAGGCAGCTGCCTGTAGCACAGTTCTCGACCCCAACGTGTTGGTCACCTGCAATAGGCCAGAGCAGGAAATACGCTTTACCATCAAGTTCCAGGAGTTCAGCCCCAACTACATGGGCCTGGAGTTCAAGAAGCACCATGATTACTACATTACCTGTGAGTCCCGCCCATCCCATCCTCTGGCTCTCTCCCTGGGCTTAACTCTTTCCTCTCCTGTAGTAGTGGGAGCTTCTAAGTGGTGCAATGCTATTGCATGTAGTTAAGACCCTGCTGGATCTGATCCCCTTTGAAGACTGGCATGTTCTCCTCTTAGCCTGGCCTTGGAATTCTCGCCCCAACATTTACCAAGCTCACCTTGGCTCCAGGGGTTGGGCAGGAGAGGTCTCCAATTCGTGTTGCTTCTCTCTTATTTTCTTTGCCCACCTAAGTTCTAATATTGGGAATGGTAACATATGCCAGGCCCTTTGGGATCAGCCAGCTATTCAGCCTTTTTCTTCAGGGGAAACCAAGGCCCCAAAAGGTGAAGGGACTTCTTGCCTTAGATCACACAGTGAGTTAGAGATAGGGTCAGGACTCCAACCCAGTTCTCCTGATTCCTACTCCAGAATTCCTTTCAGTCTATGTAGAAGCCCCCATTATGATCCCAGTGAGGAGGCAGACCTTACCGAGGGGCCATGGCCTGCTCGTGACAGAGGAGCAGTGCCCCTGGGGGTGGGGCTTGTTCTTGGCCTGGGCTGGACTAGGCCATTTTGTTCCTAGTGGGAGGGAAGAAAATGAAAAGGTTCACTGGTAGATGGGAGCTGCTTGCTTCTCCCGACTGCAGTTTCTCTCCCTGTTGGCTGAAGCAGAATGGGAGTTTCTGGGTAATGCTAGTAGACCTTTCTCTCCTCCTGACTTCTCTGACTTCTCTGGCCTCTTCCTGCAGCAACATCCAATGGAAGCCTGGAGGGGCTGGAAAACCGGGAGGGCGGTGTGTGCCGCACACGCACCATGAAGATCATCATGAAGGTTGGGCAAGGTGAGTGCCTAGTCTGAGGGTCCCCTCACCCCACCCTGTTTGACCTTTGGAACAGATGTTCCTGGCTGGGTGCATGTGTATTAGGAGTGGGGGAGCAGGCGTAGGGTTACAGTATCCAGGCCATTCTTGGCCCACCCTTGATGACTGAGGGCACCTATGCTGGCCGGGTCCCTGCCTCTCACCTGTTCTGTCTCCATTCTTAGATCCCAATGCTGTGACGCCTGAGCAGCTGACTACCAGCAGGCCCAGCAAGGAGGCAGACAACACTGTCAAGATGGCCACACAGGCCCCTGGTAGTCGGGGCTCCCTGGGTGACTCTGATGGCAAGCATGGTAAGTGTATGTGTTTCCCAGAGGTCAGGAGCCATTGCTCTGTCACCTTGTTAGGCCCTGTCCCTGAAGAAATGCAAGCTGGGCCTGGCCTGAAATCTGCTGTGTGTCCCTGGGACCCCTGGCTGACTGTTCCTTCCCCTTTCCCTTCCTCAGAGACTGTGAACCAGGAAGAGAAGAGTGGCCCAGGTGCAAGTGGGGGCAGCAGCGGGGACCCTGATGGCTTCTTCAACTCCAAGGTGGCATTGTTCGCGGCTGTCGGTGCCGGTTGCGTCATCTTCCTGCTCATCATCATCTTCCTGACGGTCCTACTACTGAAGCTACGCAAGCGGCACCGCAAGCACACACAGCAGCGGGCGGCTGCCCTCTCGCTCAGTACCCTGGCCAGTCCCAAGGGGGGCAGTGGCACAGCGGGCACCGAGCCCAGCGACATCATCATTCCCTTACGGACTACAGAGAACAACTACTGCCCCCACTATGAGAAGGTGAGTGGGGACTACGGGCACCCTGTCTACATCGTCCAAGAGATGCCGCCCCAGAGCCCGGCGAACATCTACTACAAGGTCTGAGTGCCCGGCACGGCCTCAGGCCCCCGAGGGACAGTCGGCCTGGACCGGACCTCTCCTTTCGCCCCCACACCCCCTCCCCTTGCCAGCTGTGCCCACCTTTGTATTTAGTTTTGTAGTTTCTTGGCTTTTATAATCCCCCTTTTTCCCTGCCCCCTGGGCTTCGGAGGGGGGTGCTTGTGCCCCTAACCCCCATGCTCTTGTGCCTTCCCCCTCTGGCCAGGCCTCTGGGCTCCGTGGGGGCGCCCCTTCTTGGAAGGCAGGGCTGGACACTGATGGACAGCAGGCAGGGAGACAGTCCCCTGGCCCTGCCCCTCCCTCGCCCCCCTTGCCACCTTCCCAGGACTGCTTGTCCGCTATCATCACTGTTTTTAATGCTTTTGTGTTCATTTTTTAGCTGTCAACTCATTTTCATCTGTTTTTTGAAGAAAAATGGAAAAATGTAAAAGGCAGCCCCTCCCCAGGCTTTGTGAGCCTGGCCCAAGCCAGTACAAGAGGGCCTGGGGCACGATGTGGTCAGCCAGGAAGCATAGGATGCCATTTCTTTTATAGATTCCTTGGTATTTCTGGTGGGGTAAGGGGCAGGCCAGGGCTGTTCACGCCCATGAGGGAAGAGGAAAGTGCCACTGGGCAAGGTGTCCCACCCTCCCCTCCTGACCCTCCTACGAGGCTTATCCTGGCAATGGGGTAGTCACTGCCACCCTTCCACACACACACACACACACACACACACAAAAAAAAATCCCTTCCTTGTGGGATTCTTGGGCATCTCCTGCCTCCCTCACTCTCACGGTAATTAATGTCTTAATTGGCTGTTGCCTGGGGAACAGGAGAGCTGCTGCAGGCAGATGACCTCATGGGGGGTGGAGGGAGGTGAGGTGCCCAGGTGGCTATTTGCCCTGCAGAGCTGGGAGTTTCACCCCCACCCCCCACCCTGTTCTCTCCTTACCTTTGGCATCCTTTGGCCTGGTGGGGAAACAGAGGCCCAGGGTGGAGACCTAAGCGGGTATAAGACCAGGTGGCCTGCTCCTTTTCTGGGCCCTAGCACAGGTGGGTAACCCCCACCCAACCCAGCTCCTGCTGCTGTCCCAGTCTTGGGCTGGGGCCTGGAAAGAGGAAGAGGCT
TTAGAATATGAACCTGGCTCAAAAGGCATTTGTCCATCTCCTCTCAGGAGCTGGAGTAGGAGCAACATAGAGGTGACAGGTTAGGATACAGATGAGGCCCTATCTTCTATGATCTGTTGTCTCTGGTTGAGCCCCTTCTCTTCTCCTCTGTTCTTTTTAAGAATGAGATGAATCAAGTTTAGGAATTCAGGCTCTTGCATTTTGAGGGTGGGATGAATTGCCAGTAGGACAATAGGCAGTGGGAGTGAGCAGAGCTGCACCTGGCCAGAGACTGTGGCCATCATCCCTTTGCTCCAGGCGATGCCTGTTCCTATCTTTCCATCATGACCAAGATTAGTAAGGATGGGGGAGAAGACATGGGTCCCAGACAGATTGAGCTCCCCCAGCCTTTGGCTGGGAGCTGCGGGGAGTGGTGACTAAGACATGTGTGGGCTTGCTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCACGTGTGTATGGGTATAGGAGAGGTAGTAGCAGCGGTCATGAAGGAATCTTTGTTGGGGGTGGGGGTATATAAGACTGCCACCTCCAGGTAGCATGGGCCTGACACCTTGGTACCCAGCCCATTGGCCACGTCAGCCCCCTGCGGAAATGCCACATTAGGACAAAGGGCTCCCCCAGCCAGGCAGTGCTCCACCCTGCCGAGCAGTCAGAGCCTGGCAGCCTTGCCCATGGGCCACCCCTTCCACACTCTCCTGGTAGTGTGGTTCTCTCTCCCCACCCCCAGCCTGAGGATGGAGGAAGGGCAGAAGGCTTGCTCTTGCCATCTCCACCCAGTAGGCCCAGCCCGGCTCTTGTCCGCTTCCCTGGTTCTGGAATGGCCTGGGGCCACCCCCAACCCTGAGGCTGACCATCTTCTTCCTTCTGGGCAGGTTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTGGAGACAAGCTGGACATCATCTGCCCCCGAGCAGAAGCAGGGCGGCCCTATGAGTACTACAAGCTGTACCTGGTGCGGCCTGAGCAGGCAGCTGCCTGTAGCACAGTTCTCGACCCCAACGTGTTGGTCACCTGCAATAGGCCAGAGCAGGAAATACGCTTTACCATCAAGTTCCAGGAGTTCAGCCCCAACTACATGGGCCTGGAGTTCAAGAAGCACCATGATTACTACATTACCTGTGAGTCCCGCCCATCCCATCCTCTGGCTCTCTCCCTGGGCTTAACTCTTTCCTCTCCTGTAGTAGTGGGAGCTTCTAAGTGGTGCAATGCTATTGCATGTAGTTAAGACCCTGCTGGATCTGATCCCCTTTGAAGACTGGCATGTTCTCCTCTTAGCCTGGCCTTGGAATTCTCGCCCCAACATTTACCAAGCTCACCTTGGCTCCAGGGGTTGGGCAGGAGAGGTCTCCAATTCGTGTTGCTTCTCTCTTATTTTCTTTGCCCACCTAAGTTCTAATATTGGGAATGGTAACATATGCCAGGCCCTTTGGGATCAGCCAGCTATTCAGCCTTTTTCTTCAGGGGAAACCAAGGCCCCAAAAGGTGAAGGGACTTCTTGCCTTAGATCACACAGTGAGTTAGAGATAGGGTCAGGACTCCAACCCAGTTCTCCTGATTCCTACTCCAGAATTCCTTTCAGTCTATGTAGAAGCCCCCATTATGATCCCAGTGAGGAGGCAGACCTTACCGAGGGGCCATGGCCTGCTCGTGACAGAGGAGCAGTGCCCCTGGGGGTGGGGCTTGTTCTTGGCCTGGGCTGGACTAGGCCATTTTGTTCCTAGTGGGAGGGAAGAAAATGAAAAGGTTCACTGGTAGATGGGAGCTGCTTGCTTCTCCCGACTGCAGTTTCTCTCCCTGTTGGCTGAAGCAGAATGGGAGTTTCTGGGTAATGCTAGTAGACCTTTCTCTCCTCCTGACTTCTCTGACTTCTCTGGCCTCTTCCTGCAGCAACATCCAATGGAAGCCTGGAGGGGCTGGAAAACCGGGAGGGCGGTGTGTGCCGCACACGCACCGTGAAGATCATCATGAAGGTTGGGCAAGGTGAGTGCCTAGTCTGAGGGTCCCCTCACCCCACCCTGTTTGACCTTTGGAACAGATGTTCCTGGCTGGGTGCATGTGTATTAGGAGTGGGGGAGCAGGCGTAGGGTTACAGTATCCAGGCCATTCTTGGCCCACCCTTGATGACTGAGGGCACCTATGCTGGCCGGGTCCCTGCCTCTCACCTGTTCTGTCTCCATTCTTAGATCCCAATGCTGTGACGCCTGAGCAGCTGACTACCAGCAGGCCCAGCAAGGAGGCAGACAACACTGTCAAGATGGCCACACAGGCCCCTGGTAGTCGGGGCTCCCTGGGTGACTCTGATGGCAAGCATGGTAAGTGTATGTGTTTCCCAGAGGTCAGGAGCCATTGCTCTGTCACCTTGTTAGGCCCTGTCCCTGAAGAAATGCAAGCTGGGCCTGGCCTGAAATCTGCTGTGTGTCCCTGGGACCCCTGGCTGACTGTTCCTTCCCCTTTCCCTTCCTCAGAGACTGTGAACCAGGAAGAGAAGAGTGGCCCAGGTGCAAGTGGGGGCAGCAGCGGGGACCCTGATGGCTTCTTCAACTCCAAGGTGGCATTGTTCGCGGCTGTCGGTGCCGGTTGCGTCATCTTCCTGCTCATCATCATCTTCCTGACGGTCCTACTACTGAAGCTACGCAAGCGGCACCGCAAGCACACACAGCAGCGGGCGGCTGCCCTCTCGCTCAGTACCCTGGCCAGTCCCAAGGGGGGCAGTGGCACAGCGGGCACCGAGCCCAGCGACATCATCATTCCCTTACGGACTACAGAGAACAACTACTGCCCCCACTATGAGAAGGTGAGTGGGGACTACGGGCACCCTGTCTACATCGTCCAAGAGATGCCGCCCCAGAGCCCGGCGAACATCTACTACAAGGTCTGAGTGCCCGGCACGGCCTCAGGCCCCCGAGGGACAGTCGGCCTGGACCGGACCTCTCCTTTCGCCCCCACACCCCCTCCCCTTGCCAGCTGTGCCCACCTTTGTATTTAGTTTTGTAGTTTCTTGGCTTTTATAATCCCCCTTTTTCCCTGCCCCCTGGGCTTCGGAGGGGGGTGCTTGTGCCCCTAACCCCCATGCTCTTGTGCCTTCCCCCTCTGGCCAGGCCTCTGGGCTCCGTGGGGGCGCCCCTTCTTGGAAGGCAGGGCTGGACACTGATGGACAGCAGGCAGGGAGACAGTCCCCTGGCCCTGCCCCTCCCTCGCCCCCCTTGCCACCTTCCCAGGACTGCTTGTCCGCTATCATCACTGTTTTTAATGCTTTTGTGTTCATTTTTTAGCTGTCAACTCATTTTCATCTGTTTTTTGAAGAAAAATGGAAAAATGTAAAAGGCAGCCCCTCCCCAGGCTTTGTGAGCCTGGCCCAAGCCAGTACAAGAGGGCCTGGGGCACGATGTGGTCAGCCAGGAAGCATAGGATGCCATTTCTTTTATAGATTCCTTGGTATTTCTGGTGGGGTAAGGGGCAGGCCAGGGCTGTTCACGCCCATGAGGGAAGAGGAAAGTGCCACTGGGCAAGGTGTCCCACCCTCCCCTCCTGACCCTCCTACGAGGCTTATCCTGGCAATGGGGTAGTCACTGCCACCCTTCCACACACACACACACACACACACACACAAAAAAAAATCCCTTCCTTGTGGGATTCTTGGGCATCTCCTGCCTCCCTCACTCTCACGGTAATTAATGTCTTAATTGGCTGTTGCCTGGGGAACAGGAGAGCTGCTGCAGGCAGATGACCTCATGGGGGGTGGAGGGAGGTGAGGTGCCCAGGTGGCTATTTGCCCTGCAGAGCTGGGAGTTTCACCCCCACCCCCCACCCTGTTCTCTCCTTACCTTTGGCATCCTTTGGCCTGGTGGGGAAACAGAGGCCCAGGGTGGAGACCTAAGCGGGTATAAGACCAGGTGGCCTGCTCCTTTTCTGGGCCCTAGCACAGGTGGGTAACCCCCACCCAACCCAGCTCCTGCTGCTGTCCCAGTCTTGGGCTGGGGCCTGGAAAGAGGAAGAGGCT
Task1_train_30204
The gene EFNB1 (ephrin B1) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Craniofrontonasal syndrome
AGAATATGAACCTGGCTCAAAAGGCATTTGTCCATCTCCTCTCAGGAGCTGGAGTAGGAGCAACATAGAGGTGACAGGTTAGGATACAGATGAGGCCCTATCTTCTATGATCTGTTGTCTCTGGTTGAGCCCCTTCTCTTCTCCTCTGTTCTTTTTAAGAATGAGATGAATCAAGTTTAGGAATTCAGGCTCTTGCATTTTGAGGGTGGGATGAATTGCCAGTAGGACAATAGGCAGTGGGAGTGAGCAGAGCTGCACCTGGCCAGAGACTGTGGCCATCATCCCTTTGCTCCAGGCGATGCCTGTTCCTATCTTTCCATCATGACCAAGATTAGTAAGGATGGGGGAGAAGACATGGGTCCCAGACAGATTGAGCTCCCCCAGCCTTTGGCTGGGAGCTGCGGGGAGTGGTGACTAAGACATGTGTGGGCTTGCTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCACGTGTGTATGGGTATAGGAGAGGTAGTAGCAGCGGTCATGAAGGAATCTTTGTTGGGGGTGGGGGTATATAAGACTGCCACCTCCAGGTAGCATGGGCCTGACACCTTGGTACCCAGCCCATTGGCCACGTCAGCCCCCTGCGGAAATGCCACATTAGGACAAAGGGCTCCCCCAGCCAGGCAGTGCTCCACCCTGCCGAGCAGTCAGAGCCTGGCAGCCTTGCCCATGGGCCACCCCTTCCACACTCTCCTGGTAGTGTGGTTCTCTCTCCCCACCCCCAGCCTGAGGATGGAGGAAGGGCAGAAGGCTTGCTCTTGCCATCTCCACCCAGTAGGCCCAGCCCGGCTCTTGTCCGCTTCCCTGGTTCTGGAATGGCCTGGGGCCACCCCCAACCCTGAGGCTGACCATCTTCTTCCTTCTGGGCAGGTTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTGGAGACAAGCTGGACATCATCTGCCCCCGAGCAGAAGCAGGGCGGCCCTATGAGTACTACAAGCTGTACCTGGTGCGGCCTGAGCAGGCAGCTGCCTGTAGCACAGTTCTCGACCCCAACGTGTTGGTCACCTGCAATAGGCCAGAGCAGGAAATACGCTTTACCATCAAGTTCCAGGAGTTCAGCCCCAACTACATGGGCCTGGAGTTCAAGAAGCACCATGATTACTACATTACCTGTGAGTCCCGCCCATCCCATCCTCTGGCTCTCTCCCTGGGCTTAACTCTTTCCTCTCCTGTAGTAGTGGGAGCTTCTAAGTGGTGCAATGCTATTGCATGTAGTTAAGACCCTGCTGGATCTGATCCCCTTTGAAGACTGGCATGTTCTCCTCTTAGCCTGGCCTTGGAATTCTCGCCCCAACATTTACCAAGCTCACCTTGGCTCCAGGGGTTGGGCAGGAGAGGTCTCCAATTCGTGTTGCTTCTCTCTTATTTTCTTTGCCCACCTAAGTTCTAATATTGGGAATGGTAACATATGCCAGGCCCTTTGGGATCAGCCAGCTATTCAGCCTTTTTCTTCAGGGGAAACCAAGGCCCCAAAAGGTGAAGGGACTTCTTGCCTTAGATCACACAGTGAGTTAGAGATAGGGTCAGGACTCCAACCCAGTTCTCCTGATTCCTACTCCAGAATTCCTTTCAGTCTATGTAGAAGCCCCCATTATGATCCCAGTGAGGAGGCAGACCTTACCGAGGGGCCATGGCCTGCTCGTGACAGAGGAGCAGTGCCCCTGGGGGTGGGGCTTGTTCTTGGCCTGGGCTGGACTAGGCCATTTTGTTCCTAGTGGGAGGGAAGAAAATGAAAAGGTTCACTGGTAGATGGGAGCTGCTTGCTTCTCCCGACTGCAGTTTCTCTCCCTGTTGGCTGAAGCAGAATGGGAGTTTCTGGGTAATGCTAGTAGACCTTTCTCTCCTCCTGACTTCTCTGACTTCTCTGGCCTCTTCCTGCAGCAACATCCAATGGAAGCCTGGAGGGGCTGGAAAACCGGGAGGGCGGTGTGTGCCGCACACGCACCATGAAGATCATCATGAAGGTTGGGCAAGGTGAGTGCCTAGTCTGAGGGTCCCCTCACCCCACCCTGTTTGACCTTTGGAACAGATGTTCCTGGCTGGGTGCATGTGTATTAGGAGTGGGGGAGCAGGCGTAGGGTTACAGTATCCAGGCCATTCTTGGCCCACCCTTGATGACTGAGGGCACCTATGCTGGCCGGGTCCCTGCCTCTCACCTGTTCTGTCTCCATTCTTAGATCCCAATGCTGTGACGCCTGAGCAGCTGACTACCAGCAGGCCCAGCAAGGAGGCAGACAACACTGTCAAGATGGCCACACAGGCCCCTGGTAGTCGGGGCTCCCTGGGTGACTCTGATGGCAAGCATGGTAAGTGTATGTGTTTCCCAGAGGTCAGGAGCCATTGCTCTGTCACCTTGTTAGGCCCTGTCCCTGAAGAAATGCAAGCTGGGCCTGGCCTGAAATCTGCTGTGTGTCCCTGGGACCCCTGGCTGACTGTTCCTTCCCCTTTCCCTTCCTCAGAGACTGTGAACCAGGAAGAGAAGAGTGGCCCAGGTGCAAGTGGGGGCAGCAGCGGGGACCCTGATGGCTTCTTCAACTCCAAGGTGGCATTGTTCGCGGCTGTCGGTGCCGGTTGCGTCATCTTCCTGCTCATCATCATCTTCCTGACGGTCCTACTACTGAAGCTACGCAAGCGGCACCGCAAGCACACACAGCAGCGGGCGGCTGCCCTCTCGCTCAGTACCCTGGCCAGTCCCAAGGGGGGCAGTGGCACAGCGGGCACCGAGCCCAGCGACATCATCATTCCCTTACGGACTACAGAGAACAACTACTGCCCCCACTATGAGAAGGTGAGTGGGGACTACGGGCACCCTGTCTACATCGTCCAAGAGATGCCGCCCCAGAGCCCGGCGAACATCTACTACAAGGTCTGAGTGCCCGGCACGGCCTCAGGCCCCCGAGGGACAGTCGGCCTGGACCGGACCTCTCCTTTCGCCCCCACACCCCCTCCCCTTGCCAGCTGTGCCCACCTTTGTATTTAGTTTTGTAGTTTCTTGGCTTTTATAATCCCCCTTTTTCCCTGCCCCCTGGGCTTCGGAGGGGGGTGCTTGTGCCCCTAACCCCCATGCTCTTGTGCCTTCCCCCTCTGGCCAGGCCTCTGGGCTCCGTGGGGGCGCCCCTTCTTGGAAGGCAGGGCTGGACACTGATGGACAGCAGGCAGGGAGACAGTCCCCTGGCCCTGCCCCTCCCTCGCCCCCCTTGCCACCTTCCCAGGACTGCTTGTCCGCTATCATCACTGTTTTTAATGCTTTTGTGTTCATTTTTTAGCTGTCAACTCATTTTCATCTGTTTTTTGAAGAAAAATGGAAAAATGTAAAAGGCAGCCCCTCCCCAGGCTTTGTGAGCCTGGCCCAAGCCAGTACAAGAGGGCCTGGGGCACGATGTGGTCAGCCAGGAAGCATAGGATGCCATTTCTTTTATAGATTCCTTGGTATTTCTGGTGGGGTAAGGGGCAGGCCAGGGCTGTTCACGCCCATGAGGGAAGAGGAAAGTGCCACTGGGCAAGGTGTCCCACCCTCCCCTCCTGACCCTCCTACGAGGCTTATCCTGGCAATGGGGTAGTCACTGCCACCCTTCCACACACACACACACACACACACACACAAAAAAAAATCCCTTCCTTGTGGGATTCTTGGGCATCTCCTGCCTCCCTCACTCTCACGGTAATTAATGTCTTAATTGGCTGTTGCCTGGGGAACAGGAGAGCTGCTGCAGGCAGATGACCTCATGGGGGGTGGAGGGAGGTGAGGTGCCCAGGTGGCTATTTGCCCTGCAGAGCTGGGAGTTTCACCCCCACCCCCCACCCTGTTCTCTCCTTACCTTTGGCATCCTTTGGCCTGGTGGGGAAACAGAGGCCCAGGGTGGAGACCTAAGCGGGTATAAGACCAGGTGGCCTGCTCCTTTTCTGGGCCCTAGCACAGGTGGGTAACCCCCACCCAACCCAGCTCCTGCTGCTGTCCCAGTCTTGGGCTGGGGCCTGGAAAGAGGAAGAGGCTGC
AGAATATGAACCTGGCTCAAAAGGCATTTGTCCATCTCCTCTCAGGAGCTGGAGTAGGAGCAACATAGAGGTGACAGGTTAGGATACAGATGAGGCCCTATCTTCTATGATCTGTTGTCTCTGGTTGAGCCCCTTCTCTTCTCCTCTGTTCTTTTTAAGAATGAGATGAATCAAGTTTAGGAATTCAGGCTCTTGCATTTTGAGGGTGGGATGAATTGCCAGTAGGACAATAGGCAGTGGGAGTGAGCAGAGCTGCACCTGGCCAGAGACTGTGGCCATCATCCCTTTGCTCCAGGCGATGCCTGTTCCTATCTTTCCATCATGACCAAGATTAGTAAGGATGGGGGAGAAGACATGGGTCCCAGACAGATTGAGCTCCCCCAGCCTTTGGCTGGGAGCTGCGGGGAGTGGTGACTAAGACATGTGTGGGCTTGCTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCACGTGTGTATGGGTATAGGAGAGGTAGTAGCAGCGGTCATGAAGGAATCTTTGTTGGGGGTGGGGGTATATAAGACTGCCACCTCCAGGTAGCATGGGCCTGACACCTTGGTACCCAGCCCATTGGCCACGTCAGCCCCCTGCGGAAATGCCACATTAGGACAAAGGGCTCCCCCAGCCAGGCAGTGCTCCACCCTGCCGAGCAGTCAGAGCCTGGCAGCCTTGCCCATGGGCCACCCCTTCCACACTCTCCTGGTAGTGTGGTTCTCTCTCCCCACCCCCAGCCTGAGGATGGAGGAAGGGCAGAAGGCTTGCTCTTGCCATCTCCACCCAGTAGGCCCAGCCCGGCTCTTGTCCGCTTCCCTGGTTCTGGAATGGCCTGGGGCCACCCCCAACCCTGAGGCTGACCATCTTCTTCCTTCTGGGCAGGTTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTGGAGACAAGCTGGACATCATCTGCCCCCGAGCAGAAGCAGGGCGGCCCTATGAGTACTACAAGCTGTACCTGGTGCGGCCTGAGCAGGCAGCTGCCTGTAGCACAGTTCTCGACCCCAACGTGTTGGTCACCTGCAATAGGCCAGAGCAGGAAATACGCTTTACCATCAAGTTCCAGGAGTTCAGCCCCAACTACATGGGCCTGGAGTTCAAGAAGCACCATGATTACTACATTACCTGTGAGTCCCGCCCATCCCATCCTCTGGCTCTCTCCCTGGGCTTAACTCTTTCCTCTCCTGTAGTAGTGGGAGCTTCTAAGTGGTGCAATGCTATTGCATGTAGTTAAGACCCTGCTGGATCTGATCCCCTTTGAAGACTGGCATGTTCTCCTCTTAGCCTGGCCTTGGAATTCTCGCCCCAACATTTACCAAGCTCACCTTGGCTCCAGGGGTTGGGCAGGAGAGGTCTCCAATTCGTGTTGCTTCTCTCTTATTTTCTTTGCCCACCTAAGTTCTAATATTGGGAATGGTAACATATGCCAGGCCCTTTGGGATCAGCCAGCTATTCAGCCTTTTTCTTCAGGGGAAACCAAGGCCCCAAAAGGTGAAGGGACTTCTTGCCTTAGATCACACAGTGAGTTAGAGATAGGGTCAGGACTCCAACCCAGTTCTCCTGATTCCTACTCCAGAATTCCTTTCAGTCTATGTAGAAGCCCCCATTATGATCCCAGTGAGGAGGCAGACCTTACCGAGGGGCCATGGCCTGCTCGTGACAGAGGAGCAGTGCCCCTGGGGGTGGGGCTTGTTCTTGGCCTGGGCTGGACTAGGCCATTTTGTTCCTAGTGGGAGGGAAGAAAATGAAAAGGTTCACTGGTAGATGGGAGCTGCTTGCTTCTCCCGACTGCAGTTTCTCTCCCTGTTGGCTGAAGCAGAATGGGAGTTTCTGGGTAATGCTAGTAGACCTTTCTCTCCTCCTGACTTCTCTGACTTCTCTGGCCTCTTCCTGCAGCAACATCCAATGGAAGCCTGGAGGGGCTGGAAAACCGGGAGGGCGGTGTGTGCCGCACACGCACCATAAAGATCATCATGAAGGTTGGGCAAGGTGAGTGCCTAGTCTGAGGGTCCCCTCACCCCACCCTGTTTGACCTTTGGAACAGATGTTCCTGGCTGGGTGCATGTGTATTAGGAGTGGGGGAGCAGGCGTAGGGTTACAGTATCCAGGCCATTCTTGGCCCACCCTTGATGACTGAGGGCACCTATGCTGGCCGGGTCCCTGCCTCTCACCTGTTCTGTCTCCATTCTTAGATCCCAATGCTGTGACGCCTGAGCAGCTGACTACCAGCAGGCCCAGCAAGGAGGCAGACAACACTGTCAAGATGGCCACACAGGCCCCTGGTAGTCGGGGCTCCCTGGGTGACTCTGATGGCAAGCATGGTAAGTGTATGTGTTTCCCAGAGGTCAGGAGCCATTGCTCTGTCACCTTGTTAGGCCCTGTCCCTGAAGAAATGCAAGCTGGGCCTGGCCTGAAATCTGCTGTGTGTCCCTGGGACCCCTGGCTGACTGTTCCTTCCCCTTTCCCTTCCTCAGAGACTGTGAACCAGGAAGAGAAGAGTGGCCCAGGTGCAAGTGGGGGCAGCAGCGGGGACCCTGATGGCTTCTTCAACTCCAAGGTGGCATTGTTCGCGGCTGTCGGTGCCGGTTGCGTCATCTTCCTGCTCATCATCATCTTCCTGACGGTCCTACTACTGAAGCTACGCAAGCGGCACCGCAAGCACACACAGCAGCGGGCGGCTGCCCTCTCGCTCAGTACCCTGGCCAGTCCCAAGGGGGGCAGTGGCACAGCGGGCACCGAGCCCAGCGACATCATCATTCCCTTACGGACTACAGAGAACAACTACTGCCCCCACTATGAGAAGGTGAGTGGGGACTACGGGCACCCTGTCTACATCGTCCAAGAGATGCCGCCCCAGAGCCCGGCGAACATCTACTACAAGGTCTGAGTGCCCGGCACGGCCTCAGGCCCCCGAGGGACAGTCGGCCTGGACCGGACCTCTCCTTTCGCCCCCACACCCCCTCCCCTTGCCAGCTGTGCCCACCTTTGTATTTAGTTTTGTAGTTTCTTGGCTTTTATAATCCCCCTTTTTCCCTGCCCCCTGGGCTTCGGAGGGGGGTGCTTGTGCCCCTAACCCCCATGCTCTTGTGCCTTCCCCCTCTGGCCAGGCCTCTGGGCTCCGTGGGGGCGCCCCTTCTTGGAAGGCAGGGCTGGACACTGATGGACAGCAGGCAGGGAGACAGTCCCCTGGCCCTGCCCCTCCCTCGCCCCCCTTGCCACCTTCCCAGGACTGCTTGTCCGCTATCATCACTGTTTTTAATGCTTTTGTGTTCATTTTTTAGCTGTCAACTCATTTTCATCTGTTTTTTGAAGAAAAATGGAAAAATGTAAAAGGCAGCCCCTCCCCAGGCTTTGTGAGCCTGGCCCAAGCCAGTACAAGAGGGCCTGGGGCACGATGTGGTCAGCCAGGAAGCATAGGATGCCATTTCTTTTATAGATTCCTTGGTATTTCTGGTGGGGTAAGGGGCAGGCCAGGGCTGTTCACGCCCATGAGGGAAGAGGAAAGTGCCACTGGGCAAGGTGTCCCACCCTCCCCTCCTGACCCTCCTACGAGGCTTATCCTGGCAATGGGGTAGTCACTGCCACCCTTCCACACACACACACACACACACACACACAAAAAAAAATCCCTTCCTTGTGGGATTCTTGGGCATCTCCTGCCTCCCTCACTCTCACGGTAATTAATGTCTTAATTGGCTGTTGCCTGGGGAACAGGAGAGCTGCTGCAGGCAGATGACCTCATGGGGGGTGGAGGGAGGTGAGGTGCCCAGGTGGCTATTTGCCCTGCAGAGCTGGGAGTTTCACCCCCACCCCCCACCCTGTTCTCTCCTTACCTTTGGCATCCTTTGGCCTGGTGGGGAAACAGAGGCCCAGGGTGGAGACCTAAGCGGGTATAAGACCAGGTGGCCTGCTCCTTTTCTGGGCCCTAGCACAGGTGGGTAACCCCCACCCAACCCAGCTCCTGCTGCTGTCCCAGTCTTGGGCTGGGGCCTGGAAAGAGGAAGAGGCTGC
Task1_train_30205
Assess the clinical impact of this variant on gene EFNB1 (ephrin B1), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Craniofrontonasal syndrome
AGAATATGAACCTGGCTCAAAAGGCATTTGTCCATCTCCTCTCAGGAGCTGGAGTAGGAGCAACATAGAGGTGACAGGTTAGGATACAGATGAGGCCCTATCTTCTATGATCTGTTGTCTCTGGTTGAGCCCCTTCTCTTCTCCTCTGTTCTTTTTAAGAATGAGATGAATCAAGTTTAGGAATTCAGGCTCTTGCATTTTGAGGGTGGGATGAATTGCCAGTAGGACAATAGGCAGTGGGAGTGAGCAGAGCTGCACCTGGCCAGAGACTGTGGCCATCATCCCTTTGCTCCAGGCGATGCCTGTTCCTATCTTTCCATCATGACCAAGATTAGTAAGGATGGGGGAGAAGACATGGGTCCCAGACAGATTGAGCTCCCCCAGCCTTTGGCTGGGAGCTGCGGGGAGTGGTGACTAAGACATGTGTGGGCTTGCTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCACGTGTGTATGGGTATAGGAGAGGTAGTAGCAGCGGTCATGAAGGAATCTTTGTTGGGGGTGGGGGTATATAAGACTGCCACCTCCAGGTAGCATGGGCCTGACACCTTGGTACCCAGCCCATTGGCCACGTCAGCCCCCTGCGGAAATGCCACATTAGGACAAAGGGCTCCCCCAGCCAGGCAGTGCTCCACCCTGCCGAGCAGTCAGAGCCTGGCAGCCTTGCCCATGGGCCACCCCTTCCACACTCTCCTGGTAGTGTGGTTCTCTCTCCCCACCCCCAGCCTGAGGATGGAGGAAGGGCAGAAGGCTTGCTCTTGCCATCTCCACCCAGTAGGCCCAGCCCGGCTCTTGTCCGCTTCCCTGGTTCTGGAATGGCCTGGGGCCACCCCCAACCCTGAGGCTGACCATCTTCTTCCTTCTGGGCAGGTTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTGGAGACAAGCTGGACATCATCTGCCCCCGAGCAGAAGCAGGGCGGCCCTATGAGTACTACAAGCTGTACCTGGTGCGGCCTGAGCAGGCAGCTGCCTGTAGCACAGTTCTCGACCCCAACGTGTTGGTCACCTGCAATAGGCCAGAGCAGGAAATACGCTTTACCATCAAGTTCCAGGAGTTCAGCCCCAACTACATGGGCCTGGAGTTCAAGAAGCACCATGATTACTACATTACCTGTGAGTCCCGCCCATCCCATCCTCTGGCTCTCTCCCTGGGCTTAACTCTTTCCTCTCCTGTAGTAGTGGGAGCTTCTAAGTGGTGCAATGCTATTGCATGTAGTTAAGACCCTGCTGGATCTGATCCCCTTTGAAGACTGGCATGTTCTCCTCTTAGCCTGGCCTTGGAATTCTCGCCCCAACATTTACCAAGCTCACCTTGGCTCCAGGGGTTGGGCAGGAGAGGTCTCCAATTCGTGTTGCTTCTCTCTTATTTTCTTTGCCCACCTAAGTTCTAATATTGGGAATGGTAACATATGCCAGGCCCTTTGGGATCAGCCAGCTATTCAGCCTTTTTCTTCAGGGGAAACCAAGGCCCCAAAAGGTGAAGGGACTTCTTGCCTTAGATCACACAGTGAGTTAGAGATAGGGTCAGGACTCCAACCCAGTTCTCCTGATTCCTACTCCAGAATTCCTTTCAGTCTATGTAGAAGCCCCCATTATGATCCCAGTGAGGAGGCAGACCTTACCGAGGGGCCATGGCCTGCTCGTGACAGAGGAGCAGTGCCCCTGGGGGTGGGGCTTGTTCTTGGCCTGGGCTGGACTAGGCCATTTTGTTCCTAGTGGGAGGGAAGAAAATGAAAAGGTTCACTGGTAGATGGGAGCTGCTTGCTTCTCCCGACTGCAGTTTCTCTCCCTGTTGGCTGAAGCAGAATGGGAGTTTCTGGGTAATGCTAGTAGACCTTTCTCTCCTCCTGACTTCTCTGACTTCTCTGGCCTCTTCCTGCAGCAACATCCAATGGAAGCCTGGAGGGGCTGGAAAACCGGGAGGGCGGTGTGTGCCGCACACGCACCATGAAGATCATCATGAAGGTTGGGCAAGGTGAGTGCCTAGTCTGAGGGTCCCCTCACCCCACCCTGTTTGACCTTTGGAACAGATGTTCCTGGCTGGGTGCATGTGTATTAGGAGTGGGGGAGCAGGCGTAGGGTTACAGTATCCAGGCCATTCTTGGCCCACCCTTGATGACTGAGGGCACCTATGCTGGCCGGGTCCCTGCCTCTCACCTGTTCTGTCTCCATTCTTAGATCCCAATGCTGTGACGCCTGAGCAGCTGACTACCAGCAGGCCCAGCAAGGAGGCAGACAACACTGTCAAGATGGCCACACAGGCCCCTGGTAGTCGGGGCTCCCTGGGTGACTCTGATGGCAAGCATGGTAAGTGTATGTGTTTCCCAGAGGTCAGGAGCCATTGCTCTGTCACCTTGTTAGGCCCTGTCCCTGAAGAAATGCAAGCTGGGCCTGGCCTGAAATCTGCTGTGTGTCCCTGGGACCCCTGGCTGACTGTTCCTTCCCCTTTCCCTTCCTCAGAGACTGTGAACCAGGAAGAGAAGAGTGGCCCAGGTGCAAGTGGGGGCAGCAGCGGGGACCCTGATGGCTTCTTCAACTCCAAGGTGGCATTGTTCGCGGCTGTCGGTGCCGGTTGCGTCATCTTCCTGCTCATCATCATCTTCCTGACGGTCCTACTACTGAAGCTACGCAAGCGGCACCGCAAGCACACACAGCAGCGGGCGGCTGCCCTCTCGCTCAGTACCCTGGCCAGTCCCAAGGGGGGCAGTGGCACAGCGGGCACCGAGCCCAGCGACATCATCATTCCCTTACGGACTACAGAGAACAACTACTGCCCCCACTATGAGAAGGTGAGTGGGGACTACGGGCACCCTGTCTACATCGTCCAAGAGATGCCGCCCCAGAGCCCGGCGAACATCTACTACAAGGTCTGAGTGCCCGGCACGGCCTCAGGCCCCCGAGGGACAGTCGGCCTGGACCGGACCTCTCCTTTCGCCCCCACACCCCCTCCCCTTGCCAGCTGTGCCCACCTTTGTATTTAGTTTTGTAGTTTCTTGGCTTTTATAATCCCCCTTTTTCCCTGCCCCCTGGGCTTCGGAGGGGGGTGCTTGTGCCCCTAACCCCCATGCTCTTGTGCCTTCCCCCTCTGGCCAGGCCTCTGGGCTCCGTGGGGGCGCCCCTTCTTGGAAGGCAGGGCTGGACACTGATGGACAGCAGGCAGGGAGACAGTCCCCTGGCCCTGCCCCTCCCTCGCCCCCCTTGCCACCTTCCCAGGACTGCTTGTCCGCTATCATCACTGTTTTTAATGCTTTTGTGTTCATTTTTTAGCTGTCAACTCATTTTCATCTGTTTTTTGAAGAAAAATGGAAAAATGTAAAAGGCAGCCCCTCCCCAGGCTTTGTGAGCCTGGCCCAAGCCAGTACAAGAGGGCCTGGGGCACGATGTGGTCAGCCAGGAAGCATAGGATGCCATTTCTTTTATAGATTCCTTGGTATTTCTGGTGGGGTAAGGGGCAGGCCAGGGCTGTTCACGCCCATGAGGGAAGAGGAAAGTGCCACTGGGCAAGGTGTCCCACCCTCCCCTCCTGACCCTCCTACGAGGCTTATCCTGGCAATGGGGTAGTCACTGCCACCCTTCCACACACACACACACACACACACACACAAAAAAAAATCCCTTCCTTGTGGGATTCTTGGGCATCTCCTGCCTCCCTCACTCTCACGGTAATTAATGTCTTAATTGGCTGTTGCCTGGGGAACAGGAGAGCTGCTGCAGGCAGATGACCTCATGGGGGGTGGAGGGAGGTGAGGTGCCCAGGTGGCTATTTGCCCTGCAGAGCTGGGAGTTTCACCCCCACCCCCCACCCTGTTCTCTCCTTACCTTTGGCATCCTTTGGCCTGGTGGGGAAACAGAGGCCCAGGGTGGAGACCTAAGCGGGTATAAGACCAGGTGGCCTGCTCCTTTTCTGGGCCCTAGCACAGGTGGGTAACCCCCACCCAACCCAGCTCCTGCTGCTGTCCCAGTCTTGGGCTGGGGCCTGGAAAGAGGAAGAGGCTGC
AGAATATGAACCTGGCTCAAAAGGCATTTGTCCATCTCCTCTCAGGAGCTGGAGTAGGAGCAACATAGAGGTGACAGGTTAGGATACAGATGAGGCCCTATCTTCTATGATCTGTTGTCTCTGGTTGAGCCCCTTCTCTTCTCCTCTGTTCTTTTTAAGAATGAGATGAATCAAGTTTAGGAATTCAGGCTCTTGCATTTTGAGGGTGGGATGAATTGCCAGTAGGACAATAGGCAGTGGGAGTGAGCAGAGCTGCACCTGGCCAGAGACTGTGGCCATCATCCCTTTGCTCCAGGCGATGCCTGTTCCTATCTTTCCATCATGACCAAGATTAGTAAGGATGGGGGAGAAGACATGGGTCCCAGACAGATTGAGCTCCCCCAGCCTTTGGCTGGGAGCTGCGGGGAGTGGTGACTAAGACATGTGTGGGCTTGCTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCACGTGTGTATGGGTATAGGAGAGGTAGTAGCAGCGGTCATGAAGGAATCTTTGTTGGGGGTGGGGGTATATAAGACTGCCACCTCCAGGTAGCATGGGCCTGACACCTTGGTACCCAGCCCATTGGCCACGTCAGCCCCCTGCGGAAATGCCACATTAGGACAAAGGGCTCCCCCAGCCAGGCAGTGCTCCACCCTGCCGAGCAGTCAGAGCCTGGCAGCCTTGCCCATGGGCCACCCCTTCCACACTCTCCTGGTAGTGTGGTTCTCTCTCCCCACCCCCAGCCTGAGGATGGAGGAAGGGCAGAAGGCTTGCTCTTGCCATCTCCACCCAGTAGGCCCAGCCCGGCTCTTGTCCGCTTCCCTGGTTCTGGAATGGCCTGGGGCCACCCCCAACCCTGAGGCTGACCATCTTCTTCCTTCTGGGCAGGTTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTGGAGACAAGCTGGACATCATCTGCCCCCGAGCAGAAGCAGGGCGGCCCTATGAGTACTACAAGCTGTACCTGGTGCGGCCTGAGCAGGCAGCTGCCTGTAGCACAGTTCTCGACCCCAACGTGTTGGTCACCTGCAATAGGCCAGAGCAGGAAATACGCTTTACCATCAAGTTCCAGGAGTTCAGCCCCAACTACATGGGCCTGGAGTTCAAGAAGCACCATGATTACTACATTACCTGTGAGTCCCGCCCATCCCATCCTCTGGCTCTCTCCCTGGGCTTAACTCTTTCCTCTCCTGTAGTAGTGGGAGCTTCTAAGTGGTGCAATGCTATTGCATGTAGTTAAGACCCTGCTGGATCTGATCCCCTTTGAAGACTGGCATGTTCTCCTCTTAGCCTGGCCTTGGAATTCTCGCCCCAACATTTACCAAGCTCACCTTGGCTCCAGGGGTTGGGCAGGAGAGGTCTCCAATTCGTGTTGCTTCTCTCTTATTTTCTTTGCCCACCTAAGTTCTAATATTGGGAATGGTAACATATGCCAGGCCCTTTGGGATCAGCCAGCTATTCAGCCTTTTTCTTCAGGGGAAACCAAGGCCCCAAAAGGTGAAGGGACTTCTTGCCTTAGATCACACAGTGAGTTAGAGATAGGGTCAGGACTCCAACCCAGTTCTCCTGATTCCTACTCCAGAATTCCTTTCAGTCTATGTAGAAGCCCCCATTATGATCCCAGTGAGGAGGCAGACCTTACCGAGGGGCCATGGCCTGCTCGTGACAGAGGAGCAGTGCCCCTGGGGGTGGGGCTTGTTCTTGGCCTGGGCTGGACTAGGCCATTTTGTTCCTAGTGGGAGGGAAGAAAATGAAAAGGTTCACTGGTAGATGGGAGCTGCTTGCTTCTCCCGACTGCAGTTTCTCTCCCTGTTGGCTGAAGCAGAATGGGAGTTTCTGGGTAATGCTAGTAGACCTTTCTCTCCTCCTGACTTCTCTGACTTCTCTGGCCTCTTCCTGCAGCAACATCCAATGGAAGCCTGGAGGGGCTGGAAAACCGGGAGGGCGGTGTGTGCCGCACACGCACCATTAAGATCATCATGAAGGTTGGGCAAGGTGAGTGCCTAGTCTGAGGGTCCCCTCACCCCACCCTGTTTGACCTTTGGAACAGATGTTCCTGGCTGGGTGCATGTGTATTAGGAGTGGGGGAGCAGGCGTAGGGTTACAGTATCCAGGCCATTCTTGGCCCACCCTTGATGACTGAGGGCACCTATGCTGGCCGGGTCCCTGCCTCTCACCTGTTCTGTCTCCATTCTTAGATCCCAATGCTGTGACGCCTGAGCAGCTGACTACCAGCAGGCCCAGCAAGGAGGCAGACAACACTGTCAAGATGGCCACACAGGCCCCTGGTAGTCGGGGCTCCCTGGGTGACTCTGATGGCAAGCATGGTAAGTGTATGTGTTTCCCAGAGGTCAGGAGCCATTGCTCTGTCACCTTGTTAGGCCCTGTCCCTGAAGAAATGCAAGCTGGGCCTGGCCTGAAATCTGCTGTGTGTCCCTGGGACCCCTGGCTGACTGTTCCTTCCCCTTTCCCTTCCTCAGAGACTGTGAACCAGGAAGAGAAGAGTGGCCCAGGTGCAAGTGGGGGCAGCAGCGGGGACCCTGATGGCTTCTTCAACTCCAAGGTGGCATTGTTCGCGGCTGTCGGTGCCGGTTGCGTCATCTTCCTGCTCATCATCATCTTCCTGACGGTCCTACTACTGAAGCTACGCAAGCGGCACCGCAAGCACACACAGCAGCGGGCGGCTGCCCTCTCGCTCAGTACCCTGGCCAGTCCCAAGGGGGGCAGTGGCACAGCGGGCACCGAGCCCAGCGACATCATCATTCCCTTACGGACTACAGAGAACAACTACTGCCCCCACTATGAGAAGGTGAGTGGGGACTACGGGCACCCTGTCTACATCGTCCAAGAGATGCCGCCCCAGAGCCCGGCGAACATCTACTACAAGGTCTGAGTGCCCGGCACGGCCTCAGGCCCCCGAGGGACAGTCGGCCTGGACCGGACCTCTCCTTTCGCCCCCACACCCCCTCCCCTTGCCAGCTGTGCCCACCTTTGTATTTAGTTTTGTAGTTTCTTGGCTTTTATAATCCCCCTTTTTCCCTGCCCCCTGGGCTTCGGAGGGGGGTGCTTGTGCCCCTAACCCCCATGCTCTTGTGCCTTCCCCCTCTGGCCAGGCCTCTGGGCTCCGTGGGGGCGCCCCTTCTTGGAAGGCAGGGCTGGACACTGATGGACAGCAGGCAGGGAGACAGTCCCCTGGCCCTGCCCCTCCCTCGCCCCCCTTGCCACCTTCCCAGGACTGCTTGTCCGCTATCATCACTGTTTTTAATGCTTTTGTGTTCATTTTTTAGCTGTCAACTCATTTTCATCTGTTTTTTGAAGAAAAATGGAAAAATGTAAAAGGCAGCCCCTCCCCAGGCTTTGTGAGCCTGGCCCAAGCCAGTACAAGAGGGCCTGGGGCACGATGTGGTCAGCCAGGAAGCATAGGATGCCATTTCTTTTATAGATTCCTTGGTATTTCTGGTGGGGTAAGGGGCAGGCCAGGGCTGTTCACGCCCATGAGGGAAGAGGAAAGTGCCACTGGGCAAGGTGTCCCACCCTCCCCTCCTGACCCTCCTACGAGGCTTATCCTGGCAATGGGGTAGTCACTGCCACCCTTCCACACACACACACACACACACACACACAAAAAAAAATCCCTTCCTTGTGGGATTCTTGGGCATCTCCTGCCTCCCTCACTCTCACGGTAATTAATGTCTTAATTGGCTGTTGCCTGGGGAACAGGAGAGCTGCTGCAGGCAGATGACCTCATGGGGGGTGGAGGGAGGTGAGGTGCCCAGGTGGCTATTTGCCCTGCAGAGCTGGGAGTTTCACCCCCACCCCCCACCCTGTTCTCTCCTTACCTTTGGCATCCTTTGGCCTGGTGGGGAAACAGAGGCCCAGGGTGGAGACCTAAGCGGGTATAAGACCAGGTGGCCTGCTCCTTTTCTGGGCCCTAGCACAGGTGGGTAACCCCCACCCAACCCAGCTCCTGCTGCTGTCCCAGTCTTGGGCTGGGGCCTGGAAAGAGGAAGAGGCTGC
Task1_train_30206
Mutation context: Chromosome X, Gene EDA (ectodysplasin A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
AGGCCCTGAAAAAGCACAGTGACTTGCTCAGAGGGACCCAGCAACCTAGTGGCAGGATGAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGC
AGGCCCTGAAAAAGCACAGTGACTTGCTCAGAGGGACCCAGCAACCTAGTGGCAGGATGAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCGTGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGC
Task1_train_30207
Located on Chromosome X, this mutation impacts EDA (ectodysplasin A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
GGCCCTGAAAAAGCACAGTGACTTGCTCAGAGGGACCCAGCAACCTAGTGGCAGGATGAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCA
GGCCCTGAAAAAGCACAGTGACTTGCTCAGAGGGACCCAGCAACCTAGTGGCAGGATGAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCACGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCA
Task1_train_30208
A variant was discovered on Chromosome X, affecting EDA (ectodysplasin A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
GGCCCTGAAAAAGCACAGTGACTTGCTCAGAGGGACCCAGCAACCTAGTGGCAGGATGAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCA
GGCCCTGAAAAAGCACAGTGACTTGCTCAGAGGGACCCAGCAACCTAGTGGCAGGATGAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCACGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCA
Task1_train_30209
The following genetic variant occurs in EDA (ectodysplasin A) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Tooth agenesis, selective, X-linked, 1
GGCCCTGAAAAAGCACAGTGACTTGCTCAGAGGGACCCAGCAACCTAGTGGCAGGATGAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCA
GGCCCTGAAAAAGCACAGTGACTTGCTCAGAGGGACCCAGCAACCTAGTGGCAGGATGAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCACGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCA
Task1_train_30210
A variant was discovered in gene EDA (ectodysplasin A), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
AGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTTTCTGTTTTAATATTTTTGAGCAATAGAAGCAAGGATACTAGCTCTTTACATTTGTTGACATCAATTGGAATCAGT
AGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGATTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTTTCTGTTTTAATATTTTTGAGCAATAGAAGCAAGGATACTAGCTCTTTACATTTGTTGACATCAATTGGAATCAGT
Task1_train_30211
Gene EDA (ectodysplasin A) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
CAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTTTCTGTTTTAATATTTTTGAGCAATAGAAGCAAGGATACTAGCTCTTTACATTTGTTGACATCAATTGGAATCAGTTTCCTAGAGTTATGAAGGGCTTATATGAGTCCA
CAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCAGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTTTCTGTTTTAATATTTTTGAGCAATAGAAGCAAGGATACTAGCTCTTTACATTTGTTGACATCAATTGGAATCAGTTTCCTAGAGTTATGAAGGGCTTATATGAGTCCA
Task1_train_30212
Gene EDA (ectodysplasin A) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
CTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTTTCTGTTTTAATATTTTTGAGCAATAGAAGCAAGGATACTAGCTCTTTACATTTGTTGACATCAATTGGAATCAGTTTCCTAGAGTTATGAAGGGCTTATATGAGTCCATTTCGTTTGATTCCCTTGGG
CTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAAAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTTTCTGTTTTAATATTTTTGAGCAATAGAAGCAAGGATACTAGCTCTTTACATTTGTTGACATCAATTGGAATCAGTTTCCTAGAGTTATGAAGGGCTTATATGAGTCCATTTCGTTTGATTCCCTTGGG
Task1_train_30213
A variant has been detected on Chromosome X in EDA (ectodysplasin A). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Tooth agenesis, selective, X-linked, 1
AACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTTTCTGTTTTAATATTTTTGAGCAATAGAAGCAAGGATACTAGCTCTTTACATTTGTTGACATCAATTGGAATCAGTTTCCTAGAGTTATGAAGGGCTTATATGAGTCCATTTCGTTTGATTCCCTTGGGAAACAT
AACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGGGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTTTCTGTTTTAATATTTTTGAGCAATAGAAGCAAGGATACTAGCTCTTTACATTTGTTGACATCAATTGGAATCAGTTTCCTAGAGTTATGAAGGGCTTATATGAGTCCATTTCGTTTGATTCCCTTGGGAAACAT
Task1_train_30214
Consider this mutation in EDA (ectodysplasin A) on Chromosome X. Is this a benign change or a disease-causing variant?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
TTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTTTCTGTTTTAATATTTTTGAGCAATAGAAGCAAGGATACTAGCTCTTTACATTTGTTGACATCAATTGGAATCAGTTTCCTAGAGTTATGAAGGGCTTATATGAGTCCATTTCGTTTGATTCCCTTGGGAAACATAGGCCCTAAAGGGAAAGTGACTTGCCCAAGGTCACATAACTAGAGTCAAAACTGGGATGATAGTTGCTCTAACTCCTAGTTGGGTGCCCATTCCCCCAACTACCTCCTGGGACCTTTTGCGAGGGAGCAAGATGGAGCTCCACATTAGAACTTTTGCAAAGTAGAGGGCTCAGCTCTGCATCATTTTGTTCTACTCTGCCTGTA
TTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGATGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTTTCTGTTTTAATATTTTTGAGCAATAGAAGCAAGGATACTAGCTCTTTACATTTGTTGACATCAATTGGAATCAGTTTCCTAGAGTTATGAAGGGCTTATATGAGTCCATTTCGTTTGATTCCCTTGGGAAACATAGGCCCTAAAGGGAAAGTGACTTGCCCAAGGTCACATAACTAGAGTCAAAACTGGGATGATAGTTGCTCTAACTCCTAGTTGGGTGCCCATTCCCCCAACTACCTCCTGGGACCTTTTGCGAGGGAGCAAGATGGAGCTCCACATTAGAACTTTTGCAAAGTAGAGGGCTCAGCTCTGCATCATTTTGTTCTACTCTGCCTGTA
Task1_train_30215
Mutation context: Chromosome X, Gene EDA (ectodysplasin A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
CAGCACTCAAAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACA
CAGCACTCAAAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGTGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACA
Task1_train_30216
Gene EDA (ectodysplasin A) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Anhidrotic ectodermal dysplasia
CAGCACTCAAAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACA
CAGCACTCAAAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGTGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACA
Task1_train_30217
The gene EDA (ectodysplasin A) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
TCAAAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTC
TCAAAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTTGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTC
Task1_train_30218
This variant impacts the gene EDA (ectodysplasin A) on Chromosome X. Is the change likely to result in a pathogenic outcome?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
TCAAAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTC
TCAAAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTTGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTC
Task1_train_30219
A genetic alteration is present in EDA (ectodysplasin A) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Tooth agenesis, selective, X-linked, 1
TCAAAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTC
TCAAAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTTGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTC
Task1_train_30220
The gene EDA (ectodysplasin A) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
AAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTCTCT
AAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCTGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTCTCT
Task1_train_30221
A variant has been detected on Chromosome X in EDA (ectodysplasin A). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; EDA-related disorder
AAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTCTCT
AAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCTGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTCTCT
Task1_train_30222
The following genetic variant occurs in EDA (ectodysplasin A) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
AGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTCTCTC
AGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCACAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTCTCTC
Task1_train_30223
The following genetic variant occurs in EDA (ectodysplasin A) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Tooth agenesis, selective, X-linked, 1
AGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTCTCTC
AGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCACAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTCTCTC
Task1_train_30224
Assess the clinical impact of this variant on gene EDA (ectodysplasin A), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
AGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTCTCTC
AGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCACAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTCTCTC
Task1_train_30225
The following genetic variant occurs in EDA (ectodysplasin A) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
AGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTCTCTC
AGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCTCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTCTCTC
Task1_train_30226
Here is a genetic alteration in EDA (ectodysplasin A) on Chromosome X. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
AAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTCTCTCTGGTCAA
AAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAACAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTCTCTCTGGTCAA
Task1_train_30227
This is a variant in EDA (ectodysplasin A), located on Chromosome X. Is this mutation a likely cause of disease or not?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
AACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTCTCTCTGGTCAAGGTCA
AACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAACAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTCTCTCTGGTCAAGGTCA
Task1_train_30228
An alteration has been detected in EDA (ectodysplasin A) on Chromosome X. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
TAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTCTCTCTGGTCAAGGTCAAAGCCTCTCATTAATTTTTAGCAC
TAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGATAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTCTCTCTGGTCAAGGTCAAAGCCTCTCATTAATTTTTAGCAC
Task1_train_30229
This variant lies on Chromosome X and affects the gene EDA (ectodysplasin A). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
TCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTC
TCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGAAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTC
Task1_train_30230
A variant has been detected on Chromosome X in EDA (ectodysplasin A). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
ACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAA
ACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTAGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAA
Task1_train_30231
This gene mutation involves EDA (ectodysplasin A) on Chromosome X. Is it associated with any clinical condition, or is it benign?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
CCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTC
CCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAAGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTC
Task1_train_30232
Assess the clinical impact of this variant on gene EDA (ectodysplasin A), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
GGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAG
GGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAAGAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAG
Task1_train_30233
A variant affecting Chromosome X, within the gene EDA (ectodysplasin A), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
AGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTTCCTAATCTGTCTCTAT
AGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCTAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTTCCTAATCTGTCTCTAT
Task1_train_30234
This variant lies on Chromosome X and affects the gene EDA (ectodysplasin A). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
AATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTTCCTAATCTGTCTCTATTGGCAGGTTCT
AATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTCGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTTCCTAATCTGTCTCTATTGGCAGGTTCT
Task1_train_30235
This mutation occurs in EDA (ectodysplasin A) on Chromosome X. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
ATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTTCCTAATCTGTCTCTATTGGCAGGTTCTA
ATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGCTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTTCCTAATCTGTCTCTATTGGCAGGTTCTA
Task1_train_30236
An alteration has been detected in EDA (ectodysplasin A) on Chromosome X. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
ATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTTCCTAATCTGTCTCTATTGGCAGGTTCTACTGCCTTGCCTTGTCTCATCTCAGCCTCCCTTGCTACAGCTGTGTGGCCACAGTGATAAATCTACACAGCTGCACAGTGCTTGACGGCTTGCAGGGCAATTTTATATCCATCACCTCATTTGATCTTCAGACATCCCTGTGAGAGAGGCCAGACATTCTTATAATCCCCATTTTACAGTTAGGGAAATGAGGCTCAGAGGCATTACATTTGGTTGAGGTCACATAGCTAGGAAGCGGTAGAGCTACAAAATCATATTACCCTCTAGTAGAAATGTAGTCAGTAACATCCCAAGACAGGGGAGAGGGATCAGAATTGGATTACAATAGAAGACTAGAAACCAGGATGGAAACATGGGACTGGTGGCTGAGCAAGCAGCCATTACTCATAGTGACTACTCTCTATCCTTCTCATCCTGCCAGCCAGCTGTGGTGCATCTACAGGGCCAAGGGTCAGCAATTCAAGTCAAGAATGGTAAGAATCAAAATAGGCTCTCTCCCAAAGAGGAGCTTCTCCCCTGCCTCCTCCCCAGCCTCCAAATAATCACCCAGCCTAGTTCCTCCCAGGCCGCTGAGGTACCGTTGGCATACGAAGTCATTCTTTGCTCCATCATGCCCTCTACTGGCTGTCCTGAGCAATTGCTGGCATCAAGACCAGTTGCTACACCCAAATTGCTTTAGAATCACTGATGACGGAGCTGAAAGGGACTTGAGACATCATCTAGCCCAGGCATTCTCAGGGGATGGAGGTTATATCAGAGCCACCATGGAGATATGTGTAGTTAGATTAATATTTTCACAATACAAATTATAGAAAGTAAAACTATGTAAAATTAAATTTTTCTTGTCTGATCTACACAGGTGGGCAGACAGGCTGCATCTCTCAGGGAAGGTGGGGCATGTTAGAATCTCCAGGGAATTTAAGATGCTAGTGTCTATCAAAAAGGAGAACATGTTTAATGGGGTTAAGAAACACTGATTTGTTGTAATCCCTGCATTTAAAAGATGGGGAAACAGAGTCCCAGAGAGATTGGATAATACCATAATAAATCATGCTGTCTCATATTTGTACGATACTTTAGAGTTCTCAGCATACTTTCTTTGTCTTTAATTTCATTCAGTCCTCACAACCACCCTATGAGGTAGGTATGAGCTCCTTTTTACAAGACAGAAAGTGAAGTTCAGAGAGATTAATTAAGTTTCCCAATATTTCTTAGTCAAGTTAGTTTAGGAGCCAGGATTCAAAACTACATCTTTCTGACTCTTTCCTCTCCCCTGTGCTACTTCAGTGATATGTATGTACACTCCACTGAATGATTAGGTTCATTTTCTTCCCCCAAAGAAACATGAACATTCATGAAAGAACAGCACTTTGGAATAATGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGG
ATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTTCCTAATCTGTCTCTATTGGCAGGTTCTACTGCCTTGCCTTGTCTCATCTCAGCCTCCCTTGCTACAGCTGTGTGGCCACAGTGATAAATCTACACAGCTGCACAGTGCTTGACGGCTTGCAGGGCAATTTTATATCCATCACCTCATTTGATCTTCAGACATCCCTGTGAGAGAGGCCAGACATTCTTATAATCCCCATTTTACAGTTAGGGAAATGAGGCTCAGAGGCATTACATTTGGTTGAGGTCACATAGCTAGGAAGCGGTAGAGCTACAAAATCATATTACCCTCTAGTAGAAATGTAGTCAGTAACATCCCAAGACAGGGGAGAGGGATCAGAATTGGATTACAATAGAAGACTAGAAACCAGGATGGAAACATGGGACTGGTGGCTGAGCAAGCAGCCATTACTCATAGTGACTACTCTCTATCCTTCTCATCCTGCCAGCCAGCTGTGGTGCTTCTACAGGGCCAAGGGTCAGCAATTCAAGTCAAGAATGGTAAGAATCAAAATAGGCTCTCTCCCAAAGAGGAGCTTCTCCCCTGCCTCCTCCCCAGCCTCCAAATAATCACCCAGCCTAGTTCCTCCCAGGCCGCTGAGGTACCGTTGGCATACGAAGTCATTCTTTGCTCCATCATGCCCTCTACTGGCTGTCCTGAGCAATTGCTGGCATCAAGACCAGTTGCTACACCCAAATTGCTTTAGAATCACTGATGACGGAGCTGAAAGGGACTTGAGACATCATCTAGCCCAGGCATTCTCAGGGGATGGAGGTTATATCAGAGCCACCATGGAGATATGTGTAGTTAGATTAATATTTTCACAATACAAATTATAGAAAGTAAAACTATGTAAAATTAAATTTTTCTTGTCTGATCTACACAGGTGGGCAGACAGGCTGCATCTCTCAGGGAAGGTGGGGCATGTTAGAATCTCCAGGGAATTTAAGATGCTAGTGTCTATCAAAAAGGAGAACATGTTTAATGGGGTTAAGAAACACTGATTTGTTGTAATCCCTGCATTTAAAAGATGGGGAAACAGAGTCCCAGAGAGATTGGATAATACCATAATAAATCATGCTGTCTCATATTTGTACGATACTTTAGAGTTCTCAGCATACTTTCTTTGTCTTTAATTTCATTCAGTCCTCACAACCACCCTATGAGGTAGGTATGAGCTCCTTTTTACAAGACAGAAAGTGAAGTTCAGAGAGATTAATTAAGTTTCCCAATATTTCTTAGTCAAGTTAGTTTAGGAGCCAGGATTCAAAACTACATCTTTCTGACTCTTTCCTCTCCCCTGTGCTACTTCAGTGATATGTATGTACACTCCACTGAATGATTAGGTTCATTTTCTTCCCCCAAAGAAACATGAACATTCATGAAAGAACAGCACTTTGGAATAATGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGG
Task1_train_30237
This variant affects gene EDA (ectodysplasin A) located on Chromosome X. Evaluate its biological effect and specify any disease association.
Pathogenic; Tooth agenesis, selective, X-linked, 1
ATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTTCCTAATCTGTCTCTATTGGCAGGTTCTACTGCCTTGCCTTGTCTCATCTCAGCCTCCCTTGCTACAGCTGTGTGGCCACAGTGATAAATCTACACAGCTGCACAGTGCTTGACGGCTTGCAGGGCAATTTTATATCCATCACCTCATTTGATCTTCAGACATCCCTGTGAGAGAGGCCAGACATTCTTATAATCCCCATTTTACAGTTAGGGAAATGAGGCTCAGAGGCATTACATTTGGTTGAGGTCACATAGCTAGGAAGCGGTAGAGCTACAAAATCATATTACCCTCTAGTAGAAATGTAGTCAGTAACATCCCAAGACAGGGGAGAGGGATCAGAATTGGATTACAATAGAAGACTAGAAACCAGGATGGAAACATGGGACTGGTGGCTGAGCAAGCAGCCATTACTCATAGTGACTACTCTCTATCCTTCTCATCCTGCCAGCCAGCTGTGGTGCATCTACAGGGCCAAGGGTCAGCAATTCAAGTCAAGAATGGTAAGAATCAAAATAGGCTCTCTCCCAAAGAGGAGCTTCTCCCCTGCCTCCTCCCCAGCCTCCAAATAATCACCCAGCCTAGTTCCTCCCAGGCCGCTGAGGTACCGTTGGCATACGAAGTCATTCTTTGCTCCATCATGCCCTCTACTGGCTGTCCTGAGCAATTGCTGGCATCAAGACCAGTTGCTACACCCAAATTGCTTTAGAATCACTGATGACGGAGCTGAAAGGGACTTGAGACATCATCTAGCCCAGGCATTCTCAGGGGATGGAGGTTATATCAGAGCCACCATGGAGATATGTGTAGTTAGATTAATATTTTCACAATACAAATTATAGAAAGTAAAACTATGTAAAATTAAATTTTTCTTGTCTGATCTACACAGGTGGGCAGACAGGCTGCATCTCTCAGGGAAGGTGGGGCATGTTAGAATCTCCAGGGAATTTAAGATGCTAGTGTCTATCAAAAAGGAGAACATGTTTAATGGGGTTAAGAAACACTGATTTGTTGTAATCCCTGCATTTAAAAGATGGGGAAACAGAGTCCCAGAGAGATTGGATAATACCATAATAAATCATGCTGTCTCATATTTGTACGATACTTTAGAGTTCTCAGCATACTTTCTTTGTCTTTAATTTCATTCAGTCCTCACAACCACCCTATGAGGTAGGTATGAGCTCCTTTTTACAAGACAGAAAGTGAAGTTCAGAGAGATTAATTAAGTTTCCCAATATTTCTTAGTCAAGTTAGTTTAGGAGCCAGGATTCAAAACTACATCTTTCTGACTCTTTCCTCTCCCCTGTGCTACTTCAGTGATATGTATGTACACTCCACTGAATGATTAGGTTCATTTTCTTCCCCCAAAGAAACATGAACATTCATGAAAGAACAGCACTTTGGAATAATGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGG
ATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTTCCTAATCTGTCTCTATTGGCAGGTTCTACTGCCTTGCCTTGTCTCATCTCAGCCTCCCTTGCTACAGCTGTGTGGCCACAGTGATAAATCTACACAGCTGCACAGTGCTTGACGGCTTGCAGGGCAATTTTATATCCATCACCTCATTTGATCTTCAGACATCCCTGTGAGAGAGGCCAGACATTCTTATAATCCCCATTTTACAGTTAGGGAAATGAGGCTCAGAGGCATTACATTTGGTTGAGGTCACATAGCTAGGAAGCGGTAGAGCTACAAAATCATATTACCCTCTAGTAGAAATGTAGTCAGTAACATCCCAAGACAGGGGAGAGGGATCAGAATTGGATTACAATAGAAGACTAGAAACCAGGATGGAAACATGGGACTGGTGGCTGAGCAAGCAGCCATTACTCATAGTGACTACTCTCTATCCTTCTCATCCTGCCAGCCAGCTGTGGTGCATCTACAGGGCCAAGGGTCAGAAATTCAAGTCAAGAATGGTAAGAATCAAAATAGGCTCTCTCCCAAAGAGGAGCTTCTCCCCTGCCTCCTCCCCAGCCTCCAAATAATCACCCAGCCTAGTTCCTCCCAGGCCGCTGAGGTACCGTTGGCATACGAAGTCATTCTTTGCTCCATCATGCCCTCTACTGGCTGTCCTGAGCAATTGCTGGCATCAAGACCAGTTGCTACACCCAAATTGCTTTAGAATCACTGATGACGGAGCTGAAAGGGACTTGAGACATCATCTAGCCCAGGCATTCTCAGGGGATGGAGGTTATATCAGAGCCACCATGGAGATATGTGTAGTTAGATTAATATTTTCACAATACAAATTATAGAAAGTAAAACTATGTAAAATTAAATTTTTCTTGTCTGATCTACACAGGTGGGCAGACAGGCTGCATCTCTCAGGGAAGGTGGGGCATGTTAGAATCTCCAGGGAATTTAAGATGCTAGTGTCTATCAAAAAGGAGAACATGTTTAATGGGGTTAAGAAACACTGATTTGTTGTAATCCCTGCATTTAAAAGATGGGGAAACAGAGTCCCAGAGAGATTGGATAATACCATAATAAATCATGCTGTCTCATATTTGTACGATACTTTAGAGTTCTCAGCATACTTTCTTTGTCTTTAATTTCATTCAGTCCTCACAACCACCCTATGAGGTAGGTATGAGCTCCTTTTTACAAGACAGAAAGTGAAGTTCAGAGAGATTAATTAAGTTTCCCAATATTTCTTAGTCAAGTTAGTTTAGGAGCCAGGATTCAAAACTACATCTTTCTGACTCTTTCCTCTCCCCTGTGCTACTTCAGTGATATGTATGTACACTCCACTGAATGATTAGGTTCATTTTCTTCCCCCAAAGAAACATGAACATTCATGAAAGAACAGCACTTTGGAATAATGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGG
Task1_train_30238
An alteration has been detected in EDA (ectodysplasin A) on Chromosome X. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
TGAACATTCATGAAAGAACAGCACTTTGGAATAATGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTG
TGAACATTCATGAAAGAACAGCACTTTGGAATAATGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATAAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTG
Task1_train_30239
This alteration in EDA (ectodysplasin A) on Chromosome X may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
GAATAATGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCC
GAATAATGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCTGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCC
Task1_train_30240
A mutation on Chromosome X affecting EDA (ectodysplasin A) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
TGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAG
TGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCAGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAG
Task1_train_30241
A genomic change on Chromosome X affects EDA (ectodysplasin A). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Anhidrotic ectodermal dysplasia
TGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAG
TGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCAGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAG
Task1_train_30242
Consider this mutation in EDA (ectodysplasin A) on Chromosome X. Is this a benign change or a disease-causing variant?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
TGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAG
TGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCCGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAG
Task1_train_30243
The variant affects gene EDA (ectodysplasin A), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
GTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGA
GTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGAGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGA
Task1_train_30244
A variant was discovered in gene EDA (ectodysplasin A), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Tooth agenesis, selective, 2
TCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGC
TCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCGGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGC
Task1_train_30245
Located on Chromosome X, this mutation impacts EDA (ectodysplasin A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
GCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATC
GCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACAGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATC
Task1_train_30246
Mutation context: Chromosome X, Gene EDA (ectodysplasin A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Tooth agenesis, selective, X-linked, 1
GCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATC
GCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACAGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATC
Task1_train_30247
With a mutation on Chromosome X in gene EDA (ectodysplasin A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
GCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATC
GCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACAGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATC
Task1_train_30248
Given this variant in gene EDA (ectodysplasin A) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
CCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCA
CCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGACACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCA
Task1_train_30249
This alteration occurs within gene EDA (ectodysplasin A) located on Chromosome X. Is it associated with a disease or is it a benign variant?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
GCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGC
GCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACCTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGC
Task1_train_30250
Located on Chromosome X, this mutation impacts EDA (ectodysplasin A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
GGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGT
GGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCCGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGT
Task1_train_30251
A mutation on Chromosome X affecting EDA (ectodysplasin A) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; not provided
GGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTC
GGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATGCTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTC
Task1_train_30252
A genomic change on Chromosome X affects EDA (ectodysplasin A). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
TATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTC
TATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGATGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTC
Task1_train_30253
This sequence variant lies in EDA (ectodysplasin A) on Chromosome X. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
GAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTCCTTCATGTTTGGAAAA
GAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTCCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTCCTTCATGTTTGGAAAA
Task1_train_30254
Located on Chromosome X, this mutation impacts EDA (ectodysplasin A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
ATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTCCTTCATGTTTGGAAAATAATTTCTCTTGTATTATCTCCTTTGA
ATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGATGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTCCTTCATGTTTGGAAAATAATTTCTCTTGTATTATCTCCTTTGA
Task1_train_30255
A genetic alteration is present in EDA (ectodysplasin A) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Tooth agenesis, selective, X-linked, 1
ATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTCCTTCATGTTTGGAAAATAATTTCTCTTGTATTATCTCCTTTGA
ATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGATGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTCCTTCATGTTTGGAAAATAATTTCTCTTGTATTATCTCCTTTGA
Task1_train_30256
Here is a variant affecting EDA (ectodysplasin A) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
ATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTCCTTCATGTTTGGAAAATAATTTCTCTTGTATTATCTCCTTTGA
ATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGATGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTCCTTCATGTTTGGAAAATAATTTCTCTTGTATTATCTCCTTTGA
Task1_train_30257
Here is a variant affecting EDA (ectodysplasin A) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
CGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTCCTTCATGTTTGGAAAATAATTTCTCTTGTATTATCTCCTTTGAAGAAGGCAAGGCTGATAATATGACAAACATCA
CGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCACAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTCCTTCATGTTTGGAAAATAATTTCTCTTGTATTATCTCCTTTGAAGAAGGCAAGGCTGATAATATGACAAACATCA
Task1_train_30258
A variant was discovered on Chromosome X, affecting EDA (ectodysplasin A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Tooth agenesis, selective, X-linked, 1
AAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTCCTTCATGTTTGGAAAATAATTTCTCTTGTATTATCTCCTTTGAAGAAGGCAAGGCTGATAATATGACAAACATCATTGTTTAGATGAGGCTCAGAGAGGTAG
AAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGGAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTCCTTCATGTTTGGAAAATAATTTCTCTTGTATTATCTCCTTTGAAGAAGGCAAGGCTGATAATATGACAAACATCATTGTTTAGATGAGGCTCAGAGAGGTAG
Task1_train_30259
Located on Chromosome X, this mutation impacts EDA (ectodysplasin A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
GGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTCCTTCATGTTTGGAAAATAATTTCTCTTGTATTATCTCCTTTGAAGAAGGCAAGGCTGATAATATGACAAACATCATTGTTTAGATGAGGCTCAGAGAGGTAGCACTCTCAGAGTGTTTTGA
GGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGACGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTCCTTCATGTTTGGAAAATAATTTCTCTTGTATTATCTCCTTTGAAGAAGGCAAGGCTGATAATATGACAAACATCATTGTTTAGATGAGGCTCAGAGAGGTAGCACTCTCAGAGTGTTTTGA
Task1_train_30260
A variant on Chromosome X in gene EDA (ectodysplasin A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
CTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTCCTTCATGTTTGGAAAATAATTTCTCTTGTATTATCTCCTTTGAAGAAGGCAAGGCTGATAATATGACAAACATCATTGTTTAGATGAGGCTCAGAGAGGTAGCACTCTCAGAGTGTTTTGACCAGTTTAAGCCGCAGACCTGGAGCTTC
CTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATAAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTCCTTCATGTTTGGAAAATAATTTCTCTTGTATTATCTCCTTTGAAGAAGGCAAGGCTGATAATATGACAAACATCATTGTTTAGATGAGGCTCAGAGAGGTAGCACTCTCAGAGTGTTTTGACCAGTTTAAGCCGCAGACCTGGAGCTTC
Task1_train_30261
Assess the clinical impact of this variant on gene EDA (ectodysplasin A), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
CTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTCCTTCATGTTTGGAAAATAATTTCTCTTGTATTATCTCCTTTGAAGAAGGCAAGGCTGATAATATGACAAACATCATTGTTTAGATGAGGCTCAGAGAGGTAGCACTCTCAGAGTGTTTTGACCAGTTTAAGCCGCAGACCTGGAGCTTC
CTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATTAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTCCTTCATGTTTGGAAAATAATTTCTCTTGTATTATCTCCTTTGAAGAAGGCAAGGCTGATAATATGACAAACATCATTGTTTAGATGAGGCTCAGAGAGGTAGCACTCTCAGAGTGTTTTGACCAGTTTAAGCCGCAGACCTGGAGCTTC
Task1_train_30262
The gene EDA (ectodysplasin A) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
GTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTCCTTCATGTTTGGAAAATAATTTCTCTTGTATTATCTCCTTTGAAGAAGGCAAGGCTGATAATATGACAAACATCATTGTTTAGATGAGGCTCAGAGAGGTAGCACTCTCAGAGTGTTTTGACCAGTTTAAGCCGCAGACCTGGAGCTTCAGCCAGGTCTGACT
GTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCATGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTCCTTCATGTTTGGAAAATAATTTCTCTTGTATTATCTCCTTTGAAGAAGGCAAGGCTGATAATATGACAAACATCATTGTTTAGATGAGGCTCAGAGAGGTAGCACTCTCAGAGTGTTTTGACCAGTTTAAGCCGCAGACCTGGAGCTTCAGCCAGGTCTGACT
Task1_train_30263
A sequence alteration has been identified in EDA (ectodysplasin A) on Chromosome X. Is it disease-inducing or harmless?
Pathogenic; Hypohidrotic X-linked ectodermal dysplasia
AGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTCCTTCATGTTTGGAAAATAATTTCTCTTGTATTATCTCCTTTGAAGAAGGCAAGGCTGATAATATGACAAACATCATTGTTTAGATGAGGCTCAGAGAGGTAGCACTCTCAGAGTGTTTTGACCAGTTTAAGCCGCAGACCTGGAGCTTCAGCCAGGTCTGACTCCA
AGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTCCTTTGGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAGATTCCCCCCATTTTGCCTCTGTCCGTGCCCCTTCCCTGGGTTTGGGAGCCAGGACTCCCAGAACCTCTAAGTGCTGCTGTGGAGTGAGGTGTATTGGTGTTGCAGCCGCAGAGAAATGCCCCAGTGTTATTTATTCCCCAGTGACTCCAGGGTGACAAGGCCTGCTTGACTTTCCAGAATGACCTTGAGTTAACAGGACAGTTGATGGAGCCCCAGGGTTTACATGAAGCAGAACCTTCTTTGGTTCCATGTTGACTGACTTATGGCATGACTCTTCAACCCCGAGGTCCCTGTTGTCAGATCTATTGTTTGTTGCACTAAAATGAGGATCCAGGGCAGCAGGCCAGAGAAAGCAAAGGTGCACTCCAGACTCTGGGGGTGGACATCTGACCCCAAGGGGGCTGCTGCTCCTCTCTTGGGTAGGGTAGTGGCTGGGGTGGAGTGGGAAGGGAGCATTGCAGCCTAAGAAGAAGGCCAGAGAGGGAAAAGGCAGGTGCTTTTGGCAGAGACCATAAGAGAAACCTGCCAAGGAGCATCCTTGGCAGTGGGAATGTTCTTTCTGCTCTATACTGTGGCCTGCAGGAGGGTTGGAGTGCTCTTCCCACTCCAGCTGACAGCCACACCGTGGCAGCTTGCTGGGCTTTGGGAAGTTTGCTGTGCTTTGGAACAATCACAGGGAATGGCCACAAACCTGCCCGCCTAAGACCCTGAATCCGTACTTGGGTCACATGACTCTCATTTTATTTACAGCTGTGCTCCACACTCAGAAAATTCCCTGGGGTCACCTTCTAGTTGCCCCCATTCCCAGCCTGACTAGAACTCCTGTCTTCTTTCTCCATGGAGCCTACCTCTGTCTGAGACAGGTGCCTAACCTGGGACCTGTGGTCATGTGAGTCTGGGATATTCTTTAGCTTACCTGGGCACAAACAGAATTTTCCATTTATTAAGCAGTACAAATGTTTTTCATCCATTCCTAATCAAATTCTGTCTGGGGACGAAGGGTTGGACGGGATGACCTCCAGAAGTCCCTTCAATTTCTAGTACCTGTGACTCTTAGCCCTCACCACAGCCTTCTAAATTCCCAAATCCTAGACTGCTCCTGGGCATTAGCAAGGCAGAGCCTTTTTACCTGGCCTAGAAAGGGCAAGGGGTGAGGATAGGACAGAGGGATTTTGTTCAAGTTTGCTGCAACCCAAGTGGACGTTAGGCCAGGCCTTATCTGAAAGGCCAGCAGCTGATGCTGTACTAACCCAGTCTTTCTTCACTCTGGCTTCAAAAAGCCACAGCAGAGCATTGTCACCGCAGGTGCTCATGCTGCTCCCCTAAAGCCAGGCTCAGGAGAAGCCAGTGTCTAGGCACTGAGCAGGGATCTGCCCCCTAGTTCAGGTCCAAATTCACCTTCCCCTAAACCCCAAGCTTCCCAACAGATCATATGGTAGGACCCTCGAGAGCCTTACTTCAAAGTGCCTGGGCTCAGCCTGGTTTCTGGGTGCTAGATCCAGCCCAAACCTGGGAAGGCCAGCCTTGTACAGTCTGCTCCTCTTGTTCCTGAAATGTGTTTCCTTTTCAGGAGATGGGGAATAATTTCCTTCAGGCAGCTGAAATTCACCAAGAACAGCGGGTACTTATTTCTCAGCTGTGCCTTCCCTTTCTAAGCAACCACACTGCTTGGCCCTTCAAGGGTCAGGGTGAGACGTGATGGGCTAGGCCTCCGTTGTCTGGTTGCTAATGACAGCCTTGCAACCCAAGGTGAGGTGAACTCCAGGCATGTGTCTGGCCCTAACTCCTATAAAGTGCCTCGGACAGTCCGCAGTTGTAGCAGAAACCAACAAGAACCACTCCTTCATGTTTGGAAAATAATTTCTCTTGTATTATCTCCTTTGAAGAAGGCAAGGCTGATAATATGACAAACATCATTGTTTAGATGAGGCTCAGAGAGGTAGCACTCTCAGAGTGTTTTGACCAGTTTAAGCCGCAGACCTGGAGCTTCAGCCAGGTCTGACTCCA
Task1_train_30264
This variant affects the gene ARR3 (arrestin 3) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Myopia 26, X-linked, female-limited
ATGCTTTTAAACTTTATATAACCGGTAACATACTGTACCTATCATTCTGCAGCTAGATTTTTTGTTCAGTAGCTTTTTTTTTTTTTTTTTTCTGAGACAGAGACTCACTCTGTCACCCCCACTGGAGGGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGTGTATGCCACCATGCCCAGCTAATTTTTGTATTTTAGTAGAGACGGGTTATCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGTCCTCAAGCGATCTGTCCACCTAGGCCTCCCAAAGAGCTGGGATTACAGGCGTGAGCTACCACGCCCAGCCTTGTTCAATAGCTTTTGAGATTTAACCTTGTTGGCACAGGTCTTAGTCTGTTTGTGCTGCCACAGCAAAATACCTGAGACTAGGTAATTTATAAAGAACAGATATTTATTTTCTCACAATTCTGAAAGCTGGGAAGTCTAAGATCAAGGCTCTAGCAGGTTCTGTTGTCTGATGACGGCTGCTCTCTGCTTCCAAGATGGTGCCTTATTGCTGCATCCTCCAGAGGGGAGAAACATTGTGTCCTCACATGGTGGAAGGTGGAAGGGCAAAAGGTCTCCTTTATAAGGGTCTTAATCCCATTCATAAAGGAATTCATGAACAAAGAAGCCCCATGATCTAATCACCTCTTAATGGCCATCTTAATACCATCACAATGACCATCAAGTTTCAACTCCTGAGTTATGGAGAGGCCACATACAAACCATAGGGCATTCTTTGAAGTTCTAGCTCATTTATTTTAACCTTGGTTTAGTATTCCATTATGTGAATATACCACAAATTTTTTATCCATTCTCCTGTTGATAGATTTTTAGATTATCTCCAGTTTTATGTTCTGACAAACGTTGATGCGACGGCCATTATCATATGTATCTCTCCTGAACAAAAGCTCCTTTAAAGTCAACTTATTAGCTCATACTCTACGAGCAGATTTAATTTTACTGGATAATCCCAAATAGTCTTCCAAATTGGTTGCATTAATACTCCCACCAGCAGTATGTAAGAACTCCTTTTGCTCCACATCTTCATCAACACGTAGTGTTGTCACATTTAAAATTTTTTGACAATCTCATGGGTGTGAAATCTTATCTCGTTGTGGTTTTAATTTGCATTTATCTGATTACTCACGAGACTAAACATGTTTTCATATGTTATTGGCCATTCCTTCACACACTTTGCACACTTCTGCAAGGGCCTATTCACATTCTTTGCACAGTTTTATACTGGCATTATTGTTGATGTGTGGGAGTCCTTATATATTTTGGACTCTAAACTTCAGTGTGTTATATGTGTTGCAAAGATTTTCTCCCAGGCTTTCCATTTTTTTCTTTGTTTATAAAGACTTTGAATATAAAGAAGACTTTATAAAGACTTTTAACATAAATTTTACTGCAGTCAAATGTATTAAGAATCTTTTCATTTGTGCCCATAGCCTTCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGGGCAGTGACACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACTACCACCAAGCCAGGCTAATACTTTGTATTTTTTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGGTGGTTTCTATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAGCCTTCGATCATATTACATCACCTCTCTGTGTCTTCTTGACCCAGTTAAGATTCCCCTTCCCACTCAGGCCTGACAGACCACTCTCTTCCTCCTATGCCTGCAGTGTTTGTCATGTTGACATGTGCCTTTCGCTATGGCCGTGATGACTTGGAAGTGATTGGTCTGACGTTCCGAAAAGATCTGTATGTGCAGACCCTGCAAGTGGTCCCAGCTGAATCCAGCAGCCCTCAGGGGCCCCTCACAGTCCTACAGGAGCGACTACTGCACAAGCTAGGGGACAATGCCTACCCCTTTACCCTGCAGGTACTGACCCCAAGCCCTGGGCAGGCAAGGTCTCCAGGGAAGATTAAGAGAGGAAGCTCAAGAAGGACAACAAGGGAGAGGGTTCCCCATTTCTTTTGTATTTGTTTGTATTCTTTTCTACTTCTTTTCTGATCTCCTTTTTGTCCCCTAGATGGTGACCAACCTGCCCTGTTCTGTGACACTGCAGCCAGGTCCTGAAGATGCAGGAAAGGTGAGGACTGGGTTCTAAGAAAGAGGGATAGGTAGTGCCAGGGAAGAGGAACAGTGGGACAGTCAAGACTGGAGAAATGGACAGCTAAGGAAAGAGGTCAGGCATTTTCTTATAGGCCCATGAGGAAGGGAGGACAGCACTGGAAATGAGCTCTCTTTGCCCTTGTCCCTTTACAGCCCTGTGGGATTGACTTTGAAGTGAAGAGTTTCTGTGCTGAAAACCCAGAGGAGACAGTCTCCAAGAGGTATTCTTTGGTTGTCCCCAAAAATCCCTGCCTCCAGCCTCTGCCAGGAAACAGATCCTGCTCTCATGACAGAAATAGCCCCACTTCTAACCTCCACAGCCTCATCGCCACCAGTGACACCCGGTTCTGAGTCCCCTCTGACTTACCTTCTTTGATCTAGGGCAGGGGTCAGCAAACTTTTCTGTAATGGGCCAAAAAAAGAAATATTTGGCTTTTTGAGCCCTATAGTCTCCGTTGCAACTACTCAACTCTGCCGTTGTAGTGCAATCGCAGCCACAGATAGTATAGAAATGAATGAGTGTGGCTGTGTGTCCAATAGAACTTTACTTATGGACACTGAAATTTGAATTTCATGTAATGTCCACATGTCACAAAATAGCATTGTTCTTTGATTTATTTCAACCATTTACAAATGTAATATAACCATTCTCAGCTTGTGGGCCATAGGAAAACAGGCATCAGGCCAGATTTGGCCAGTGGGCCATAGTTTAATAACCTTTGGTCTACATGCTTACATTAAGGGACTAGAGGAGTTCTCTGAGGGAGGCCTTCCCCTGCTCCCATTCTTAAGCAACAATTGGACTATGGGGGTGGCATGGGAGAGGTCTGTGGGTCTGAAAGGAGGACGCTCTGGCTAATCTCTTGGTCTCTGCTCAGAGACTATGTGCGGCTGGTTGTCCGGAAAGTACAATTTGCACCACCGGAGGCAGGCCCTGGCCCCTCAGCCCAGACCATCCGCCGCTTCCTTCTGTCAGCTCAGCCCCTACAACTCCAGGCCTGGATGGACAGGGAGGTTTGTGACCCCCACTTTTTGCCTCCCACCCCAGAACCCCTCTGATGCCCTTTCTTCACTGATTTCCTACTTGGGCAGGCAGAGATGGGAGCCAGGGTGGCAATAGCGCTAAGGAAGCAGGGGTTCTAGGTCTCCATCTGCGTATTCGTCCTCCAGCCTTGACATGGGTCCCCGCTCCTGCTTTAGGTTCACTACCACGGAGAACCCATCTCTGTCAATGTTTCTATCAACAACTGCACCAACAAGGTCATCAAAAAAATCAAGATTTCAGGTGAGTTTCTTTTCCCATCCCTGTGCACCTGGTCCCAAAGCCACAGGTCTTTTCCCAAAATTCTATCTCACTTACCTGTCTGCATTCATCTAGGCTTTCCCTCTAACATGGGCTTGTCAAAATGCATATCTTGTTTTGTCAATGAGCATGTCTCACTGCATCATGTATAGTGTGCCTATGTATAAGGTCACATCTAAGGACACTGAGCTGGGGTCTCAAGGATGACTGACTGATTATAATCATGTGCTTTTCCTGGCTTGTTCAGTTGACCAGATCACAGATGTTGTCCTGTATTCACTAGACAAGTACACCAAGACTGTGTTCATTCAGGAATTCACGTGAGCTGGTGCTGGGGCTAGGACCAGAGAGCCAAGGGGTGGGGTGGTGGGAAGAGGTCCAGGAGGCAGTTGAGGGGGTAGAGT
ATGCTTTTAAACTTTATATAACCGGTAACATACTGTACCTATCATTCTGCAGCTAGATTTTTTGTTCAGTAGCTTTTTTTTTTTTTTTTTTCTGAGACAGAGACTCACTCTGTCACCCCCACTGGAGGGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGTGTATGCCACCATGCCCAGCTAATTTTTGTATTTTAGTAGAGACGGGTTATCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGTCCTCAAGCGATCTGTCCACCTAGGCCTCCCAAAGAGCTGGGATTACAGGCGTGAGCTACCACGCCCAGCCTTGTTCAATAGCTTTTGAGATTTAACCTTGTTGGCACAGGTCTTAGTCTGTTTGTGCTGCCACAGCAAAATACCTGAGACTAGGTAATTTATAAAGAACAGATATTTATTTTCTCACAATTCTGAAAGCTGGGAAGTCTAAGATCAAGGCTCTAGCAGGTTCTGTTGTCTGATGACGGCTGCTCTCTGCTTCCAAGATGGTGCCTTATTGCTGCATCCTCCAGAGGGGAGAAACATTGTGTCCTCACATGGTGGAAGGTGGAAGGGCAAAAGGTCTCCTTTATAAGGGTCTTAATCCCATTCATAAAGGAATTCATGAACAAAGAAGCCCCATGATCTAATCACCTCTTAATGGCCATCTTAATACCATCACAATGACCATCAAGTTTCAACTCCTGAGTTATGGAGAGGCCACATACAAACCATAGGGCATTCTTTGAAGTTCTAGCTCATTTATTTTAACCTTGGTTTAGTATTCCATTATGTGAATATACCACAAATTTTTTATCCATTCTCCTGTTGATAGATTTTTAGATTATCTCCAGTTTTATGTTCTGACAAACGTTGATGCGACGGCCATTATCATATGTATCTCTCCTGAACAAAAGCTCCTTTAAAGTCAACTTATTAGCTCATACTCTACGAGCAGATTTAATTTTACTGGATAATCCCAAATAGTCTTCCAAATTGGTTGCATTAATACTCCCACCAGCAGTATGTAAGAACTCCTTTTGCTCCACATCTTCATCAACACGTAGTGTTGTCACATTTAAAATTTTTTGACAATCTCATGGGTGTGAAATCTTATCTCGTTGTGGTTTTAATTTGCATTTATCTGATTACTCACGAGACTAAACATGTTTTCATATGTTATTGGCCATTCCTTCACACACTTTGCACACTTCTGCAAGGGCCTATTCACATTCTTTGCACAGTTTTATACTGGCATTATTGTTGATGTGTGGGAGTCCTTATATATTTTGGACTCTAAACTTCAGTGTGTTATATGTGTTGCAAAGATTTTCTCCCAGGCTTTCCATTTTTTTCTTTGTTTATAAAGACTTTGAATATAAAGAAGACTTTATAAAGACTTTTAACATAAATTTTACTGCAGTCAAATGTATTAAGAATCTTTTCATTTGTGCCCATAGCCTTCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGGGCAGTGACACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACTACCACCAAGCCAGGCTAATACTTTGTATTTTTTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGGTGGTTTCTATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAGCCTTCGATCATATTACATCACCTCTCTGTGTCTTCTTGACCCAGTTAAGATTCCCCTTCCCACTCAGGCCTGACAGACCACTCTCTTCCTCCTATGCCTGCAGTGTTTGTCATGTTGACATGTGCCTTTCGCTATGGCCGTGATGACTTGGAAGTGATTGGTCTGACGTTCCGAAAAGATCTGTATGTGCAGACCCCGCAAGTGGTCCCAGCTGAATCCAGCAGCCCTCAGGGGCCCCTCACAGTCCTACAGGAGCGACTACTGCACAAGCTAGGGGACAATGCCTACCCCTTTACCCTGCAGGTACTGACCCCAAGCCCTGGGCAGGCAAGGTCTCCAGGGAAGATTAAGAGAGGAAGCTCAAGAAGGACAACAAGGGAGAGGGTTCCCCATTTCTTTTGTATTTGTTTGTATTCTTTTCTACTTCTTTTCTGATCTCCTTTTTGTCCCCTAGATGGTGACCAACCTGCCCTGTTCTGTGACACTGCAGCCAGGTCCTGAAGATGCAGGAAAGGTGAGGACTGGGTTCTAAGAAAGAGGGATAGGTAGTGCCAGGGAAGAGGAACAGTGGGACAGTCAAGACTGGAGAAATGGACAGCTAAGGAAAGAGGTCAGGCATTTTCTTATAGGCCCATGAGGAAGGGAGGACAGCACTGGAAATGAGCTCTCTTTGCCCTTGTCCCTTTACAGCCCTGTGGGATTGACTTTGAAGTGAAGAGTTTCTGTGCTGAAAACCCAGAGGAGACAGTCTCCAAGAGGTATTCTTTGGTTGTCCCCAAAAATCCCTGCCTCCAGCCTCTGCCAGGAAACAGATCCTGCTCTCATGACAGAAATAGCCCCACTTCTAACCTCCACAGCCTCATCGCCACCAGTGACACCCGGTTCTGAGTCCCCTCTGACTTACCTTCTTTGATCTAGGGCAGGGGTCAGCAAACTTTTCTGTAATGGGCCAAAAAAAGAAATATTTGGCTTTTTGAGCCCTATAGTCTCCGTTGCAACTACTCAACTCTGCCGTTGTAGTGCAATCGCAGCCACAGATAGTATAGAAATGAATGAGTGTGGCTGTGTGTCCAATAGAACTTTACTTATGGACACTGAAATTTGAATTTCATGTAATGTCCACATGTCACAAAATAGCATTGTTCTTTGATTTATTTCAACCATTTACAAATGTAATATAACCATTCTCAGCTTGTGGGCCATAGGAAAACAGGCATCAGGCCAGATTTGGCCAGTGGGCCATAGTTTAATAACCTTTGGTCTACATGCTTACATTAAGGGACTAGAGGAGTTCTCTGAGGGAGGCCTTCCCCTGCTCCCATTCTTAAGCAACAATTGGACTATGGGGGTGGCATGGGAGAGGTCTGTGGGTCTGAAAGGAGGACGCTCTGGCTAATCTCTTGGTCTCTGCTCAGAGACTATGTGCGGCTGGTTGTCCGGAAAGTACAATTTGCACCACCGGAGGCAGGCCCTGGCCCCTCAGCCCAGACCATCCGCCGCTTCCTTCTGTCAGCTCAGCCCCTACAACTCCAGGCCTGGATGGACAGGGAGGTTTGTGACCCCCACTTTTTGCCTCCCACCCCAGAACCCCTCTGATGCCCTTTCTTCACTGATTTCCTACTTGGGCAGGCAGAGATGGGAGCCAGGGTGGCAATAGCGCTAAGGAAGCAGGGGTTCTAGGTCTCCATCTGCGTATTCGTCCTCCAGCCTTGACATGGGTCCCCGCTCCTGCTTTAGGTTCACTACCACGGAGAACCCATCTCTGTCAATGTTTCTATCAACAACTGCACCAACAAGGTCATCAAAAAAATCAAGATTTCAGGTGAGTTTCTTTTCCCATCCCTGTGCACCTGGTCCCAAAGCCACAGGTCTTTTCCCAAAATTCTATCTCACTTACCTGTCTGCATTCATCTAGGCTTTCCCTCTAACATGGGCTTGTCAAAATGCATATCTTGTTTTGTCAATGAGCATGTCTCACTGCATCATGTATAGTGTGCCTATGTATAAGGTCACATCTAAGGACACTGAGCTGGGGTCTCAAGGATGACTGACTGATTATAATCATGTGCTTTTCCTGGCTTGTTCAGTTGACCAGATCACAGATGTTGTCCTGTATTCACTAGACAAGTACACCAAGACTGTGTTCATTCAGGAATTCACGTGAGCTGGTGCTGGGGCTAGGACCAGAGAGCCAAGGGGTGGGGTGGTGGGAAGAGGTCCAGGAGGCAGTTGAGGGGGTAGAGT
Task1_train_30265
A mutation on Chromosome X affecting ARR3 (arrestin 3) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Myopia 26, X-linked, female-limited
GGAAAGAGGTCAGGCATTTTCTTATAGGCCCATGAGGAAGGGAGGACAGCACTGGAAATGAGCTCTCTTTGCCCTTGTCCCTTTACAGCCCTGTGGGATTGACTTTGAAGTGAAGAGTTTCTGTGCTGAAAACCCAGAGGAGACAGTCTCCAAGAGGTATTCTTTGGTTGTCCCCAAAAATCCCTGCCTCCAGCCTCTGCCAGGAAACAGATCCTGCTCTCATGACAGAAATAGCCCCACTTCTAACCTCCACAGCCTCATCGCCACCAGTGACACCCGGTTCTGAGTCCCCTCTGACTTACCTTCTTTGATCTAGGGCAGGGGTCAGCAAACTTTTCTGTAATGGGCCAAAAAAAGAAATATTTGGCTTTTTGAGCCCTATAGTCTCCGTTGCAACTACTCAACTCTGCCGTTGTAGTGCAATCGCAGCCACAGATAGTATAGAAATGAATGAGTGTGGCTGTGTGTCCAATAGAACTTTACTTATGGACACTGAAATTTGAATTTCATGTAATGTCCACATGTCACAAAATAGCATTGTTCTTTGATTTATTTCAACCATTTACAAATGTAATATAACCATTCTCAGCTTGTGGGCCATAGGAAAACAGGCATCAGGCCAGATTTGGCCAGTGGGCCATAGTTTAATAACCTTTGGTCTACATGCTTACATTAAGGGACTAGAGGAGTTCTCTGAGGGAGGCCTTCCCCTGCTCCCATTCTTAAGCAACAATTGGACTATGGGGGTGGCATGGGAGAGGTCTGTGGGTCTGAAAGGAGGACGCTCTGGCTAATCTCTTGGTCTCTGCTCAGAGACTATGTGCGGCTGGTTGTCCGGAAAGTACAATTTGCACCACCGGAGGCAGGCCCTGGCCCCTCAGCCCAGACCATCCGCCGCTTCCTTCTGTCAGCTCAGCCCCTACAACTCCAGGCCTGGATGGACAGGGAGGTTTGTGACCCCCACTTTTTGCCTCCCACCCCAGAACCCCTCTGATGCCCTTTCTTCACTGATTTCCTACTTGGGCAGGCAGAGATGGGAGCCAGGGTGGCAATAGCGCTAAGGAAGCAGGGGTTCTAGGTCTCCATCTGCGTATTCGTCCTCCAGCCTTGACATGGGTCCCCGCTCCTGCTTTAGGTTCACTACCACGGAGAACCCATCTCTGTCAATGTTTCTATCAACAACTGCACCAACAAGGTCATCAAAAAAATCAAGATTTCAGGTGAGTTTCTTTTCCCATCCCTGTGCACCTGGTCCCAAAGCCACAGGTCTTTTCCCAAAATTCTATCTCACTTACCTGTCTGCATTCATCTAGGCTTTCCCTCTAACATGGGCTTGTCAAAATGCATATCTTGTTTTGTCAATGAGCATGTCTCACTGCATCATGTATAGTGTGCCTATGTATAAGGTCACATCTAAGGACACTGAGCTGGGGTCTCAAGGATGACTGACTGATTATAATCATGTGCTTTTCCTGGCTTGTTCAGTTGACCAGATCACAGATGTTGTCCTGTATTCACTAGACAAGTACACCAAGACTGTGTTCATTCAGGAATTCACGTGAGCTGGTGCTGGGGCTAGGACCAGAGAGCCAAGGGGTGGGGTGGTGGGAAGAGGTCCAGGAGGCAGTTGAGGGGGTAGAGTGGGGGAGAAGAGTGGTGGAAGATTCCAGGGAGGGATTCCCAGGAGAACTAGATGGAGGGGATGCAACTTACCCCCAGGAGTCCCATCACGATGCTGAGCGAGGGCAGGGGCATAAGGATTTCCCACCAGAACTAATTTCTCCCAGTCTTCAGTTAAACATGTTACCTCTCTTGGATACTCCAGTAGGTTCTTGTATAATCTTGTACAAGATACTCTTGGGAGTAAAAGTATGCTTAGTCAGCAAGCCCAGCCTAAATTCTTCTCTTGTTCTTCTTTTGTAGGGAGACTGTAGCTGCTAATTCCAGCTTCTCCCAGAGCTTTGCAGTAACCCCAATCCTGGCTGCCAGCTGCCAGAAACGGGGCCTGGCACTGGATGGCAAACTTAAGCATGAAGATACCAACCTGGCCTCTAGCACAATGTAAGCTCAAATATAACTCTCAGCCTCCATTTCCTACCCCTCAACCATTCCACATGCTACATTTACAGCTCTGAGGTTTCATGTTCAGTAAAGCCTACCTGTTTTTTAAAGTGTCTCTAGGGCAGTGTTCAGAGACTCCTCCAGGCCTAAAGGCCTGCAGCAAGCTCAATAATGCCTGTGGGACCAACGGCAGGCTTAGGTCAGCGGCAGAAAAAAAGGAAAACATGGAGAGGAAAACAATCCTTATGTTGTATAAGATTTCACAGTTCACAAAGGTCCGACATATGTACTATGCTATCTTTGTGAGAATCCCACTAAAGTAGCCTGGACAGGTGTTCTTATTCCCTTTTACACTTAAGGACCCTGAGGCTCAGAGAGAAGAAGGAACTCACTTAAAGTGGCATAGCTGATAAGTGGTAGATGTAGACAGGATTATATCACATGTCATCTGGCTCTGAATACTGTGATCTCTACAGAAGCTACTCTCTAGAAAAAATAAAGATGGAGTAGAAGACTAGGAGATGAGAAATGGAGGAAAAGGAGGACAAAAAAGGAAAATGATGCAACAGGAATTAATAGAATTCTAGGAAGTCATTCACTTGGTCCTGTGCCTTCGGAGGCCCTAGTGTTAGATGTGTCTTCCACCAAAAACCACCTGCCACCATCTGTCAAGTGTAATCCCTCCATCTCTCCATACGTCTTTTCAATCAAGTAGCTATAGACTGTTATTGCTAGAAATACCCTTAGAAATCATCCAAACTGCATTATTTTATATGTAAGAGATCAGCAGCCCAGAGCAATGAAGAGATTTTCTCAAGCTCATGCAGCTTTCGCTGTCTTATTTTTCAATCAGTGGGTTTTTTACTGAACCCCTATTACATGCTCTTTCCTATGCTAAGCAATGTGGAGAATATAAAGAAGTTTAAGACAGTCTCTGCCTTCAGTCAATTTATGGCCTAGATGAGGAACGAAGAGAGATGCAAATACAACCCAACAGTTAAATGTTAGTACACGTGGTTCAGAGTAAATCGCAACAAAGTTAAAAGAAGCCAGGAGAGCTGGTGAGGGCTTCCTGGAGGAGGTAGAATGAGCTAGATCTTGAAGAATGTGAAGGATCTGGATACCAACAGAGGAAAAAAAGGAGCACTGTAGACTAGGGACACAGCATGGGCAAAGGCTAGAAGGTGGGAATCCACATGGCATGTTCTGATCACGGAGAGAAGATGGGTCTGCTTAGGTTGTATCCCAGGAGTTAGGGGAGAAAAGGTTAGAGAGGCTAGATAGGGCAAGGTTGTTAGGGGTCTTGAAAGTCAGGCAGAGTAGTTGTTATATTCAAAAGGTAGGCTCTTGAGCAGAGAGTGACATGGTAAAAGTGAATGTCAGGAAGAGAAATGTGGTCTCAACGGGTAGGAAAGGTTAGAGCCTGGGAGATATTCTGGGATAAGACTAAACATAATAGGGTGTGGTGATAGGAATGCATGAGAAGAAACTGGGGACAGAATGAATTACTCTTCATGCCCCAAACACCCTAAAACGAATACTACAACCTCCAGTATTAGACCGGGAATGGACAAAGAGCTGCTGGGGATCCTGGTGTCCTACAAAGTCAGAGTCAACCTGATGGTGTCCTGTGGTGGGTAAGTGAGGGTTCTGGGTCTGTCTGGGCAGGGGCTGAAGAGTCAAGGGCTTTTCGCCTCTGTTTTTCTCCCAGTTAGATTGACCCAATCAAACCATTCCCCACCCTTTCTCCCAGACCAGGTTCCCAAACCTGTGAGCTCAGTGAGCAAGTCACTTTCCCTTCCAGAAACCCATTCTGTGGCTGGCTCATTAGGTCTTATGATCCCTCATCCCCTTGTGAAACTAGGTTGCCCCTTCTCTATTTCCCGCTGCTAATTTTGGGTGTCATTCTACCCACAGCATCCTAGGAGACCTGACAGCCAGGTGAGAGACTGTGGGGTGGGGGAACTTGGGCAAGAAGAGGAGGACAAGGGGATAAGGAGAGCAAAATAATGATTGATTCTGGAGGGTCTGAGGG
GGAAAGAGGTCAGGCATTTTCTTATAGGCCCATGAGGAAGGGAGGACAGCACTGGAAATGAGCTCTCTTTGCCCTTGTCCCTTTACAGCCCTGTGGGATTGACTTTGAAGTGAAGAGTTTCTGTGCTGAAAACCCAGAGGAGACAGTCTCCAAGAGGTATTCTTTGGTTGTCCCCAAAAATCCCTGCCTCCAGCCTCTGCCAGGAAACAGATCCTGCTCTCATGACAGAAATAGCCCCACTTCTAACCTCCACAGCCTCATCGCCACCAGTGACACCCGGTTCTGAGTCCCCTCTGACTTACCTTCTTTGATCTAGGGCAGGGGTCAGCAAACTTTTCTGTAATGGGCCAAAAAAAGAAATATTTGGCTTTTTGAGCCCTATAGTCTCCGTTGCAACTACTCAACTCTGCCGTTGTAGTGCAATCGCAGCCACAGATAGTATAGAAATGAATGAGTGTGGCTGTGTGTCCAATAGAACTTTACTTATGGACACTGAAATTTGAATTTCATGTAATGTCCACATGTCACAAAATAGCATTGTTCTTTGATTTATTTCAACCATTTACAAATGTAATATAACCATTCTCAGCTTGTGGGCCATAGGAAAACAGGCATCAGGCCAGATTTGGCCAGTGGGCCATAGTTTAATAACCTTTGGTCTACATGCTTACATTAAGGGACTAGAGGAGTTCTCTGAGGGAGGCCTTCCCCTGCTCCCATTCTTAAGCAACAATTGGACTATGGGGGTGGCATGGGAGAGGTCTGTGGGTCTGAAAGGAGGACGCTCTGGCTAATCTCTTGGTCTCTGCTCAGAGACTATGTGCGGCTGGTTGTCCGGAAAGTACAATTTGCACCACCGGAGGCAGGCCCTGGCCCCTCAGCCCAGACCATCCGCCGCTTCCTTCTGTCAGCTCAGCCCCTACAACTCCAGGCCTGGATGGACAGGGAGGTTTGTGACCCCCACTTTTTGCCTCCCACCCCAGAACCCCTCTGATGCCCTTTCTTCACTGATTTCCTACTTGGGCAGGCAGAGATGGGAGCCAGGGTGGCAATAGCGCTAAGGAAGCAGGGGTTCTAGGTCTCCATCTGCGTATTCGTCCTCCAGCCTTGACATGGGTCCCCGCTCCTGCTTTAGGTTCACTACCACGGAGAACCCATCTCTGTCAATGTTTCTATCAACAACTGCACCAACAAGGTCATCAAAAAAATCAAGATTTCAGGTGAGTTTCTTTTCCCATCCCTGTGCACCTGGTCCCAAAGCCACAGGTCTTTTCCCAAAATTCTATCTCACTTACCTGTCTGCATTCATCTAGGCTTTCCCTCTAACATGGGCTTGTCAAAATGCATATCTTGTTTTGTCAATGAGCATGTCTCACTGCATCATGTATAGTGTGCCTATGTATAAGGTCACATCTAAGGACACTGAGCTGGGGTCTCAAGGATGACTGACTGATTATAATCATGTGCTTTTCCTGGCTTGTTCAGTTGACCAGATCACAGATGTTGTCCTGTATTCACTAGACAAGTACACCAAGACTGTGTTCATTCAGGAATTCACGTGAGCTGGTGCTGGGGCTAGGACCAGAGAGCCAAGGGGTGGGGTGGTGGGAAGAGGTCCAGGAGGCAGTTGAGGGGGTAGAGTGGGGGAGAAGAGTGGTGGAAGATTCCAGGGAGGGATTCCCAGGAGAACTAGATGGAGGGGATGCAACTTACCCCCAGGAGTCCCATCACGATGCTGAGCGAGGGCAGGGGCATAAGGATTTCCCACCAGAACTAATTTCTCCCAGTCTTCAGTTAAACATGTTACCTCTCTTGGATACTCCAGTAGGTTCTTGTATAATCTTGTACAAGATACTCTTGGGAGTAAAAGTATGCTTAGTCAGCAAGCCCAGCCTAAATTCTTCTCTTGTTCTTCTTTTGTAGGGAGACTGTAGCTGCTAATTCCAGCTTCTCCCAGAGCTTTGCAGTAACCCCAATCCTGGCTGCCAGCTGCCAGAAACGGGGCCTGGCACTGGATGGCAAACTTAAGCATGAAGATACCAACCTGGACTCTAGCACAATGTAAGCTCAAATATAACTCTCAGCCTCCATTTCCTACCCCTCAACCATTCCACATGCTACATTTACAGCTCTGAGGTTTCATGTTCAGTAAAGCCTACCTGTTTTTTAAAGTGTCTCTAGGGCAGTGTTCAGAGACTCCTCCAGGCCTAAAGGCCTGCAGCAAGCTCAATAATGCCTGTGGGACCAACGGCAGGCTTAGGTCAGCGGCAGAAAAAAAGGAAAACATGGAGAGGAAAACAATCCTTATGTTGTATAAGATTTCACAGTTCACAAAGGTCCGACATATGTACTATGCTATCTTTGTGAGAATCCCACTAAAGTAGCCTGGACAGGTGTTCTTATTCCCTTTTACACTTAAGGACCCTGAGGCTCAGAGAGAAGAAGGAACTCACTTAAAGTGGCATAGCTGATAAGTGGTAGATGTAGACAGGATTATATCACATGTCATCTGGCTCTGAATACTGTGATCTCTACAGAAGCTACTCTCTAGAAAAAATAAAGATGGAGTAGAAGACTAGGAGATGAGAAATGGAGGAAAAGGAGGACAAAAAAGGAAAATGATGCAACAGGAATTAATAGAATTCTAGGAAGTCATTCACTTGGTCCTGTGCCTTCGGAGGCCCTAGTGTTAGATGTGTCTTCCACCAAAAACCACCTGCCACCATCTGTCAAGTGTAATCCCTCCATCTCTCCATACGTCTTTTCAATCAAGTAGCTATAGACTGTTATTGCTAGAAATACCCTTAGAAATCATCCAAACTGCATTATTTTATATGTAAGAGATCAGCAGCCCAGAGCAATGAAGAGATTTTCTCAAGCTCATGCAGCTTTCGCTGTCTTATTTTTCAATCAGTGGGTTTTTTACTGAACCCCTATTACATGCTCTTTCCTATGCTAAGCAATGTGGAGAATATAAAGAAGTTTAAGACAGTCTCTGCCTTCAGTCAATTTATGGCCTAGATGAGGAACGAAGAGAGATGCAAATACAACCCAACAGTTAAATGTTAGTACACGTGGTTCAGAGTAAATCGCAACAAAGTTAAAAGAAGCCAGGAGAGCTGGTGAGGGCTTCCTGGAGGAGGTAGAATGAGCTAGATCTTGAAGAATGTGAAGGATCTGGATACCAACAGAGGAAAAAAAGGAGCACTGTAGACTAGGGACACAGCATGGGCAAAGGCTAGAAGGTGGGAATCCACATGGCATGTTCTGATCACGGAGAGAAGATGGGTCTGCTTAGGTTGTATCCCAGGAGTTAGGGGAGAAAAGGTTAGAGAGGCTAGATAGGGCAAGGTTGTTAGGGGTCTTGAAAGTCAGGCAGAGTAGTTGTTATATTCAAAAGGTAGGCTCTTGAGCAGAGAGTGACATGGTAAAAGTGAATGTCAGGAAGAGAAATGTGGTCTCAACGGGTAGGAAAGGTTAGAGCCTGGGAGATATTCTGGGATAAGACTAAACATAATAGGGTGTGGTGATAGGAATGCATGAGAAGAAACTGGGGACAGAATGAATTACTCTTCATGCCCCAAACACCCTAAAACGAATACTACAACCTCCAGTATTAGACCGGGAATGGACAAAGAGCTGCTGGGGATCCTGGTGTCCTACAAAGTCAGAGTCAACCTGATGGTGTCCTGTGGTGGGTAAGTGAGGGTTCTGGGTCTGTCTGGGCAGGGGCTGAAGAGTCAAGGGCTTTTCGCCTCTGTTTTTCTCCCAGTTAGATTGACCCAATCAAACCATTCCCCACCCTTTCTCCCAGACCAGGTTCCCAAACCTGTGAGCTCAGTGAGCAAGTCACTTTCCCTTCCAGAAACCCATTCTGTGGCTGGCTCATTAGGTCTTATGATCCCTCATCCCCTTGTGAAACTAGGTTGCCCCTTCTCTATTTCCCGCTGCTAATTTTGGGTGTCATTCTACCCACAGCATCCTAGGAGACCTGACAGCCAGGTGAGAGACTGTGGGGTGGGGGAACTTGGGCAAGAAGAGGAGGACAAGGGGATAAGGAGAGCAAAATAATGATTGATTCTGGAGGGTCTGAGGG
Task1_train_30266
Consider a variant on Chromosome X in gene TEX11 (testis expressed 11). Determine its clinical classification and disease relevance.
Pathogenic; Non-obstructive azoospermia
GTCTGAAACTATGTCAAAATCAAAAGTTTAAAAATGTTAATACAAATCAACTGGAGGAAAAAGGTAGTGTAATCTTATGGTACACTAATGCCAGTCTACCCAGAAAGAGGCTGCTCAACTGTATTGGTCAGGCCTCACTGGAACATGGGGCTTGGCTTTTGGAAGGTGAGGTGACCAGATCACATGAGGAACAACTAAGGGGTCTGAGGATGTTTACCTCGAAGGAGAAAAAGCCTGGAGGACAAAGATAGGCCTGGCTTCTGTCTTCAGAGGCATCTCCAAGGGGCATCTGTGACACAGGAAGCAGATTTGTTACAGGGAGACAGACTTCTGTTTAGTATGAGGTAGGACATTTTACCAATTAGCAAAATAGGTGGGTTCAGCTATCTCAGGAATTCCCTGTCATGGGATAAGTTCCTTTTTTTGTTTTTCGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGCGTACAGTGGCTCAATCTCAGCTCACTGCAACCTCTGTCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGCGCCACCATGCCTGGCTATTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGAGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCACAAGCCACTACGCCTGGCCTGGAATAAGTTCTGTTAGAAACTGGGCAACAGATTCTCAAGGATGTTAGAGAGAGATTTCATGAATCAGATAAATGCTGGCCCTGGTGACCACTAAGGTCCTTCCAAATAAGAGTCTGGGATTCTTTGATATCTTCAGGGATTAGGAATTTGAGCACTTTGGGAATAAAATGCAATCTGTGTTGAACTGGGATGAACATTCTCTTTTGTTCAGATGGGGCATAAACCATCTTGCTCTCACATGGTCTATTTCAATATCATCCTTAGCACTTTGGAAAATTCATTTGTCCCCCAGAAATGAGCTGGTCACCAAGGTAAATTCAGCATGCTTTTATTTTAGAAAGTTTATTCAACAACATGAAAACAGGGTCTGAGCAAACAGAAACAAAAGCTCAAGAGAAACTCTGGCAAAAATTTAAACAGTCAGCATCTCGGGACAATGTATCTTCTTCATGTGGCCATGAGCTTGCCTAATCTGACTTGCTCCAGTAGCCATGTTCATGAAAAACTGGGCCCTTGTTGTTACTCAATGCTTCCACAAGCTGACTATACAGCATATTCATCTGGGAAAGAGAACAACAAATAGATTTCTTGAGGGGAAAAAGAAATGTGGGAAAGCTTCCCAGACCCACGGTGATGGCATGAAAGTCTAACCGTTACCTTCGGAGATCTGAAGCATCTCAGATTTGGGGAGAAAATACAGTCCTCTCTTGAGGAAAAGGAATCCCCTATTATAAGGGAGAAGATACTTAACTATAAAATATCCTTTGCTCTTATTTGGTAACAAGGCTTTTTCTCTACCAAACCTCTCCTGGTTAGCCAATGGCCCAGAACTCTGCAACTGAGAATAGTTCCTGGAGAAAATGCCTTTTTCAACAGTTATTGCTTTGAGCAGAGGCCAGTCCTTTCCCACATGCACTGGCACTGACAGTGATGCATCTTTCCAGAGCTCACTCTTGGCATTCCTCTTAATTAGATTCCATTTGCTATCCTTAAATTTCCCCCTGTTCTCTGTCCTTCTTGGTTTTTGCTCTAAGGAATTACTGTTTATGGTCTCCTGATTCTTGAAGTTATGTGGAACCATTGAGAGGAACAATGAGCAAGATCCTTTCCTAGCCAAGGAGGATGGGGTTGAGTCCTTGTGGAGAGCCCAGCCATAACCTCTTGCCCCCTAGGTCATGTCATCTGCCCTAGCCCTCTCCCTCCTTACCTGAGTTTCATAGCTTTCCTTGAAGGAGGTAAGGTGGTTAAGGAAACGCAAGGCCAGGCCACACCACTTTTCAGCAGATGCATACTTGCTCCTGCTAAACATAAGTACTCCGGTATTCCAGGACTTGACCATCAGCCAGAGAATCTCCATTTCTGGGTAGTCTTTCTATAATCCAAGAACAGAAATTTTGCAGTTATTACTGTCACAGTTCATTGTGGCACTACCTGTATCCATGCTATGTCCCTTTATTACTAAACAAACAATAGGAGCTCTGCTGATGTTTAGGAAGGTCTGTGCTCCTGGAGAGTGCAGGAGGAGAGCACTTTGAAGGTTTGTCAGCTGTAGAATGTTCCATAGCAAGATCTCATGAAGAGACGTAAACCGAGGTCCTCTCTGACTGAAGGAAAGAATTAGAAAGATTCCTAATCTTCCTGAGGCACGAGAAAAACTTGCATACTGTTTGGGGCTTCCCTTGATTCTGTCTTCAGTCAATTACCTCCCTAATACCTACCTCTACTTTTCGGATAAGGTTGTCAAGAAGCAGTTTTATTGAATTTCTTAATTTCTGTCACCAGAATTAGTCCATATTTGGAGTAGAAATTATATTCATCTTCAGAGTTAACGATATCTACCTAGCTATGAACACAGCACACATTTCTAAGATGGTCCCTTAGCCTTATCAGTGGTCTTTAACATGACTAATCACAAGATTATATTTGCTTCTTCACAATACTTTGCAATAGTGAAAAGTATTAGTCTAAGAAGCTACTTTCTTGGTTCTTGCATAGGAGATGGAACACAAAGAAAGCATTCATGTTAAAGCCCCAGAAGGGAGAAATGTGATAGGAGACACATTAGGCAGCAGCTTTTTGAGAGTGTCAAGAATGCTGTCTCAGCTGTCATCCTTTCATTCATTTGGATCCAAAAAGAAATTACTATACATAAAACACTGTGATAATGAGGGCACTAAGAGGGAAAAGACAAAACTTTTATCCTAAAGGTTGTGCAATGCTTTTGGGGACACAAGGCATCCACATGTAAAGACGACTTCACAAGGTATGTGATTAAGAGACACAAACATTAGGTGCTCTCATTCAGTTAAAGAAATGAGCACTAGGATATTCCAGTCAGAGGCGGTCTAGTCTCTGCTTGAAACACTACTCCTCATCCTTGTCCACTTCATAGACTTATACTTTTTCTTCAAATTCACAAGAACAGTTAGTTGTCTGTTCCCACAGTGAGCTTTCCATTCCTCTAATATAACTTATGTTATATTGTTTTGAAATGCTATGTATTTATCTCCTCCAGACTATTGAGTTCCTTGAGGTACAGGGAATTTTTCCTGTGCATTTTTGTATCTTCAGAGTCCAGCACTGTGCCTGGCACATAAGAGGCACAACAGATGTTTGCTGAATGAATGAATGAACAAATGAATCAATATCCAGTCAGATGCCACCTCCTCAGTGAGGATTTCCCTGGCTCTCCACAATTTCTTGCTCAAACCTCTTTGCCCCTCTGCTACTTTGTTCACAGCACCATAATAGTACTTTGAACACTGTACTGCCTGTCTCCCCCACTAGGCAGGGAGCCCCTTGAAGGTAAAATGACATTTGCCTTTGCTTGGCACAGTGTCTGATACAGGGTATGAGTGTTGTGATTTTAATGTTGTGAATGAAAAAAATGACTTAAACAAACAAACAAACATGATCTTAGGGTAGATGAGTAGGATCTACATATACAGAGATTATATGAAATGTGCAGAATAGGCAAAGCCATAGAGACAGAAAGGAGATTTGTGGTTGCCAGGGGCTGGGGAAGGGAGGTATGGGGAAGGACTGCTAATGGGTATAGAGTTTCTTTTGGGGATGATGAAAATGTTCTAGAATTAGATAATGGTGATGGTTGCACAATCTTTTGAATATACTATAACTCACTGAACTGTATACCTTAATGTGAGTTTTATGATATATGAACTAAATCTCAATTAAAAAGAAAAATATAGATATTCAGAGAAAGAGAAGGGCATTCCATGTGGGTAGAACAGAATAAATGAAGACTTGGATTGTACTTGAGAACAAGCATGTCTTAGGAAGACCAAGAGTTCTTTGGCCTAAGCAGACGATTTATGTAGAGGAGTTAACGGGAAATAAGACTGGAAATGTAGG
GTCTGAAACTATGTCAAAATCAAAAGTTTAAAAATGTTAATACAAATCAACTGGAGGAAAAAGGTAGTGTAATCTTATGGTACACTAATGCCAGTCTACCCAGAAAGAGGCTGCTCAACTGTATTGGTCAGGCCTCACTGGAACATGGGGCTTGGCTTTTGGAAGGTGAGGTGACCAGATCACATGAGGAACAACTAAGGGGTCTGAGGATGTTTACCTCGAAGGAGAAAAAGCCTGGAGGACAAAGATAGGCCTGGCTTCTGTCTTCAGAGGCATCTCCAAGGGGCATCTGTGACACAGGAAGCAGATTTGTTACAGGGAGACAGACTTCTGTTTAGTATGAGGTAGGACATTTTACCAATTAGCAAAATAGGTGGGTTCAGCTATCTCAGGAATTCCCTGTCATGGGATAAGTTCCTTTTTTTGTTTTTCGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGCGTACAGTGGCTCAATCTCAGCTCACTGCAACCTCTGTCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGCGCCACCATGCCTGGCTATTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGAGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCACAAGCCACTACGCCTGGCCTGGAATAAGTTCTGTTAGAAACTGGGCAACAGATTCTCAAGGATGTTAGAGAGAGATTTCATGAATCAGATAAATGCTGGCCCTGGTGACCACTAAGGTCCTTCCAAATAAGAGTCTGGGATTCTTTGATATCTTCAGGGATTAGGAATTTGAGCACTTTGGGAATAAAATGCAATCTGTGTTGAACTGGGATGAACATTCTCTTTTGTTCAGATGGGGCATAAACCATCTTGCTCTCACATGGTCTATTTCAATATCATCCTTAGCACTTTGGAAAATTCATTTGTCCCCCAGAAATGAGCTGGTCACCAAGGTAAATTCAGCATGCTTTTATTTTAGAAAGTTTATTCAACAACATGAAAACAGGGTCTGAGCAAACAGAAACAAAAGCTCAAGAGAAACTCTGGCAAAAATTTAAACAGTCAGCATCTCGGGACAATGTATCTTCTTCATGTGGCCATGAGCTTGCCTAATCTGACTTGCTCCAGTAGCCATGTTCATGAAAAACTGGGCCCTTGTTGTTACTCAATGCTTCCACAAGCTGACTATACAGCATATTCATCTGGGAAAGAGAACAACAAATAGATTTCTTGAGGGGAAAAAGAAATGTGGGAAAGCTTCCCAGACCCACGGTGATGGCATGAAAGTCTAACCGTTACCTTCGGAGATCTGAAGCATCTCAGATTTGGGGAGAAAATACAGTCCTCTCTTGAGGAAAAGGAATCCCCTATTATAAGGGAGAAGATACTTAACTATAAAATATCCTTTGCTCTTATTTGGTAACAAGGCTTTTTCTCTACCAAACCTCTCCTGGTTAGCCAATGGCCCAGAACTCTGCAACTGAGAATAGTTCCTGGAGAAAATGCCTTTTTCAACAGTTATTGCTTTGAGCAGAGGCCAGTCCTTTCCCACATGCACTGGCACTGACAGTGATGCATCTTTCCAGAGCTCACTCTTGGCATTCCTCTTAATTAGATTCCATTTGCTATCCTTAAATTTCCCCCTGTTCTCTGTCCTTCTTGGTTTTTGCTCTAAGGAATTACTGTTTATGGTCTCCTGATTCTTGAAGTTATGTGGAACCATTGAGAGGAACAATGAGCAAGATCCTTTCCTAGCCAAGGAGGATGGGGTTGAGTCCTTGTGGAGAGCCCAGCCATAACCTCTTGCCCCCTAGGTCATGTCATCTGCCCTAGCCCTCTCCCTCCTTACCTGAGTTTCATAGCTTTCCTTGAAGGAGGTAAGGTGGTTAAGGAAACGCAAGGCCAGGCCACACCACTTTTCAGCAGATGCATACTTGCTCCTGCTAAACATAAGTACTCCGGTATTACAGGACTTGACCATCAGCCAGAGAATCTCCATTTCTGGGTAGTCTTTCTATAATCCAAGAACAGAAATTTTGCAGTTATTACTGTCACAGTTCATTGTGGCACTACCTGTATCCATGCTATGTCCCTTTATTACTAAACAAACAATAGGAGCTCTGCTGATGTTTAGGAAGGTCTGTGCTCCTGGAGAGTGCAGGAGGAGAGCACTTTGAAGGTTTGTCAGCTGTAGAATGTTCCATAGCAAGATCTCATGAAGAGACGTAAACCGAGGTCCTCTCTGACTGAAGGAAAGAATTAGAAAGATTCCTAATCTTCCTGAGGCACGAGAAAAACTTGCATACTGTTTGGGGCTTCCCTTGATTCTGTCTTCAGTCAATTACCTCCCTAATACCTACCTCTACTTTTCGGATAAGGTTGTCAAGAAGCAGTTTTATTGAATTTCTTAATTTCTGTCACCAGAATTAGTCCATATTTGGAGTAGAAATTATATTCATCTTCAGAGTTAACGATATCTACCTAGCTATGAACACAGCACACATTTCTAAGATGGTCCCTTAGCCTTATCAGTGGTCTTTAACATGACTAATCACAAGATTATATTTGCTTCTTCACAATACTTTGCAATAGTGAAAAGTATTAGTCTAAGAAGCTACTTTCTTGGTTCTTGCATAGGAGATGGAACACAAAGAAAGCATTCATGTTAAAGCCCCAGAAGGGAGAAATGTGATAGGAGACACATTAGGCAGCAGCTTTTTGAGAGTGTCAAGAATGCTGTCTCAGCTGTCATCCTTTCATTCATTTGGATCCAAAAAGAAATTACTATACATAAAACACTGTGATAATGAGGGCACTAAGAGGGAAAAGACAAAACTTTTATCCTAAAGGTTGTGCAATGCTTTTGGGGACACAAGGCATCCACATGTAAAGACGACTTCACAAGGTATGTGATTAAGAGACACAAACATTAGGTGCTCTCATTCAGTTAAAGAAATGAGCACTAGGATATTCCAGTCAGAGGCGGTCTAGTCTCTGCTTGAAACACTACTCCTCATCCTTGTCCACTTCATAGACTTATACTTTTTCTTCAAATTCACAAGAACAGTTAGTTGTCTGTTCCCACAGTGAGCTTTCCATTCCTCTAATATAACTTATGTTATATTGTTTTGAAATGCTATGTATTTATCTCCTCCAGACTATTGAGTTCCTTGAGGTACAGGGAATTTTTCCTGTGCATTTTTGTATCTTCAGAGTCCAGCACTGTGCCTGGCACATAAGAGGCACAACAGATGTTTGCTGAATGAATGAATGAACAAATGAATCAATATCCAGTCAGATGCCACCTCCTCAGTGAGGATTTCCCTGGCTCTCCACAATTTCTTGCTCAAACCTCTTTGCCCCTCTGCTACTTTGTTCACAGCACCATAATAGTACTTTGAACACTGTACTGCCTGTCTCCCCCACTAGGCAGGGAGCCCCTTGAAGGTAAAATGACATTTGCCTTTGCTTGGCACAGTGTCTGATACAGGGTATGAGTGTTGTGATTTTAATGTTGTGAATGAAAAAAATGACTTAAACAAACAAACAAACATGATCTTAGGGTAGATGAGTAGGATCTACATATACAGAGATTATATGAAATGTGCAGAATAGGCAAAGCCATAGAGACAGAAAGGAGATTTGTGGTTGCCAGGGGCTGGGGAAGGGAGGTATGGGGAAGGACTGCTAATGGGTATAGAGTTTCTTTTGGGGATGATGAAAATGTTCTAGAATTAGATAATGGTGATGGTTGCACAATCTTTTGAATATACTATAACTCACTGAACTGTATACCTTAATGTGAGTTTTATGATATATGAACTAAATCTCAATTAAAAAGAAAAATATAGATATTCAGAGAAAGAGAAGGGCATTCCATGTGGGTAGAACAGAATAAATGAAGACTTGGATTGTACTTGAGAACAAGCATGTCTTAGGAAGACCAAGAGTTCTTTGGCCTAAGCAGACGATTTATGTAGAGGAGTTAACGGGAAATAAGACTGGAAATGTAGG
Task1_train_30267
The gene IL2RG (interleukin 2 receptor subunit gamma) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; X-linked severe combined immunodeficiency
GGGGGTTAGAGATGACCCAACTCCTTCTGACCTTTGGCCATTAGTCCCCTCCCTAAGCTCCTCACTTGTTTTAGGCAACTTTACTTTACTGCGGATGTAATACAGCAACACGACGACAGCACAGTTGGTATTGACCAGAAACTGCTGATTATCTGAGAAGAGATAGGATGGGACACATGGGCCCATTTCTGTGATCTCCACTGCCCTCAGATCCCTCCACCCCCATCCACAGACTCTAGTTCTGTGCTGCCCCTCACCTCCATGTTTGATGAAGATGAACATGCCCTCAAGATCGCCTCACTCTTCACAAAGTGCCCTGATGAGTCATGCAGAAGGAGGGTGTTCTAGAGGCCTTGTGTGGGGCAAATAGGCCTATAGGGTTGGTGGACTAGAGAGGCAGATGGATTTCATAGGCTGAGGATGCCCAGGCTGGACAGGCAGGAGAGAGCTGTTGATAGTTGTGGATAACCAGTATCCCCAGGGGTGGGGCCTGAGACTGCAGTTAAGGGATTATGAGGTCAGAAGTGGCAGGTGTGGCCAAAAAGTGGAGTAAGGGTAAGGAGAGAAAAACTTGGGTGGGGTATGTTAAAGATTAGTTGGAAAGGGGGGACAACATGGTAAGTCTAACTTTTTTTATTTTTTTTATTTTTTTAGATGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCATCCTCTACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGAGCACACCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCACCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCATTGTAAGTCTAACTCTAAACTAAACCCTGGAATGAGTGCAGGGCACCTGGAAAAAAGTCAGTTTCCAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAAACATGTTCGGGGCAAAAGGGTAATTCTCAAGTGGGGAATGCCAAATGAAGGGGTGCTTACATGGGGGCACAAAATTCCAAATCAGCCACAGTGGGGTGAGGTGAGTATGAGACGCAGGTGGGTTGAATGAAGGAAAGTTAGTACCACTTAGGGCTACAGGACCCTGGGGTTCTTCTGTCAGAGGATTGGGGTTCAGGTTTCAGGCTTTAGGGTGTAACATGGGGGGGCCCAGTAGGGGCTATGCTGGTTGCATGGGGAGGCCCCAGGCCCCTCCCCAAGGGCCCCTCCTTTTGGGGGAATCTCACTGACGAGGCAGAGTCGTTCACTGTAGTCTGGCTGCAGACTCTCAGCCAGTCCCTTAGACACACCACTCCAGGCCTAAAGACAGATATGTCCAGGTCAGGGGTCAATTAGGGGCAGGAAGTAAAAGACCGAGCTCTGTGCCAAAGGAGTACTCATGATGTCTGCAACCACTGTAATTGATTACAGAAGGGATACACAGGCTCCTGGGCCCCCAATACCAGTTGCCATCTGCCTCATTCAATCTATAATCTGCACTTCTGTGTGTGTCTCTCTCTGTATAGTCCATGCCCCATTTGGTCGGCCACATCCTGACAGTTAGTGCAGGGCCTCCTTCCCTCTCCTCTCTGCCCCCACCCCCACACTCTGTCTGTCTTGCTGGCAGGCAGTTGGCAGTTGATAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATA
GGGGGTTAGAGATGACCCAACTCCTTCTGACCTTTGGCCATTAGTCCCCTCCCTAAGCTCCTCACTTGTTTTAGGCAACTTTACTTTACTGCGGATGTAATACAGCAACACGACGACAGCACAGTTGGTATTGACCAGAAACTGCTGATTATCTGAGAAGAGATAGGATGGGACACATGGGCCCATTTCTGTGATCTCCACTGCCCTCAGATCCCTCCACCCCCATCCACAGACTCTAGTTCTGTGCTGCCCCTCACCTCCATGTTTGATGAAGATGAACATGCCCTCAAGATCGCCTCACTCTTCACAAAGTGCCCTGATGAGTCATGCAGAAGGAGGGTGTTCTAGAGGCCTTGTGTGGGGCAAATAGGCCTATAGGGTTGGTGGACTAGAGAGGCAGATGGATTTCATAGGCTGAGGATGCCCAGGCTGGACAGGCAGGAGAGAGCTGTTGATAGTTGTGGATAACCAGTATCCCCAGGGGTGGGGCCTGAGACTGCAGTTAAGGGATTATGAGGTCAGAAGTGGCAGGTGTGGCCAAAAAGTGGAGTAAGGGTAAGGAGAGAAAAACTTGGGTGGGGTATGTTAAAGATTAGTTGGAAAGGGGGGACAACATGGTAAGTCTAACTTTTTTTATTTTTTTTATTTTTTTAGATGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCATCCTCTACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGAGCACACCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCACCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCATTGTAAGTCTAACTCTAAACTAAACCCTGGAATGAGTGCAGGGCACCTGGAAAAAAGTCAGTTTCCAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAAACATGTTCGGGGCAAAAGGGTAATTCTCAAGTGGGGAATGCCAAATGAAGGGGTGCTTACATGGGGGCACAAAATTCCAAATCAGCCACAGTGGGGTGAGGTGAGTATGAGACGCAGGTGGGTTGAATGAAGGAAAGTTAGTACCACTTAGGGCTACAGGACCCTGGGGTTCTTCTGTCAGAGGATTGGGGTTCAGGTTTCAGGCTTTAGGGTGTAACATGGGGGGGCCCAGTAGGGGCTATGCTGGTTGCATGGGGAGGCCCCAGGCCCCTCCCCAAGGGCCCCTCCTTTTGGGGGAATCTCACTGACGAGGCAGAGTCGTTCACTGTAGTCTGGCTGCAGACTCTCAGCCAGTCCCTTAGACACACCACTCCAGGCCTAAAGACAGATATGTCCAGGTCAGGGGTCAATTAGGGGCAGGAAGTAAAAGACCGAGCTCTGTGCCAAAGGAGTACTCATGATGTCTGCAACCACTGTAATTGATTACAGAAGGGATACACAGGCTCCTGGGCCCCCAATACCAGTTGCCATCTGCCTCATTCAATCTATAATCTGCACTTCTGTGTGTGTCTCTCTCTGTATAGTCCATGCCCCATTTGGTCGGCCACATCCTGACAGTTAGTGCAGGGCCTCCTTCCCTCTCCTCTCTGCCCCCACCCCCACACTCTGTCTGTCTTGCTGGCAGGCAGTTGGCAGTTGATAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCTGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATA
Task1_train_30268
Gene IL2RG (interleukin 2 receptor subunit gamma), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; X-linked severe combined immunodeficiency
GAACATGCCCTCAAGATCGCCTCACTCTTCACAAAGTGCCCTGATGAGTCATGCAGAAGGAGGGTGTTCTAGAGGCCTTGTGTGGGGCAAATAGGCCTATAGGGTTGGTGGACTAGAGAGGCAGATGGATTTCATAGGCTGAGGATGCCCAGGCTGGACAGGCAGGAGAGAGCTGTTGATAGTTGTGGATAACCAGTATCCCCAGGGGTGGGGCCTGAGACTGCAGTTAAGGGATTATGAGGTCAGAAGTGGCAGGTGTGGCCAAAAAGTGGAGTAAGGGTAAGGAGAGAAAAACTTGGGTGGGGTATGTTAAAGATTAGTTGGAAAGGGGGGACAACATGGTAAGTCTAACTTTTTTTATTTTTTTTATTTTTTTAGATGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCATCCTCTACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGAGCACACCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCACCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCATTGTAAGTCTAACTCTAAACTAAACCCTGGAATGAGTGCAGGGCACCTGGAAAAAAGTCAGTTTCCAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAAACATGTTCGGGGCAAAAGGGTAATTCTCAAGTGGGGAATGCCAAATGAAGGGGTGCTTACATGGGGGCACAAAATTCCAAATCAGCCACAGTGGGGTGAGGTGAGTATGAGACGCAGGTGGGTTGAATGAAGGAAAGTTAGTACCACTTAGGGCTACAGGACCCTGGGGTTCTTCTGTCAGAGGATTGGGGTTCAGGTTTCAGGCTTTAGGGTGTAACATGGGGGGGCCCAGTAGGGGCTATGCTGGTTGCATGGGGAGGCCCCAGGCCCCTCCCCAAGGGCCCCTCCTTTTGGGGGAATCTCACTGACGAGGCAGAGTCGTTCACTGTAGTCTGGCTGCAGACTCTCAGCCAGTCCCTTAGACACACCACTCCAGGCCTAAAGACAGATATGTCCAGGTCAGGGGTCAATTAGGGGCAGGAAGTAAAAGACCGAGCTCTGTGCCAAAGGAGTACTCATGATGTCTGCAACCACTGTAATTGATTACAGAAGGGATACACAGGCTCCTGGGCCCCCAATACCAGTTGCCATCTGCCTCATTCAATCTATAATCTGCACTTCTGTGTGTGTCTCTCTCTGTATAGTCCATGCCCCATTTGGTCGGCCACATCCTGACAGTTAGTGCAGGGCCTCCTTCCCTCTCCTCTCTGCCCCCACCCCCACACTCTGTCTGTCTTGCTGGCAGGCAGTTGGCAGTTGATAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAG
GAACATGCCCTCAAGATCGCCTCACTCTTCACAAAGTGCCCTGATGAGTCATGCAGAAGGAGGGTGTTCTAGAGGCCTTGTGTGGGGCAAATAGGCCTATAGGGTTGGTGGACTAGAGAGGCAGATGGATTTCATAGGCTGAGGATGCCCAGGCTGGACAGGCAGGAGAGAGCTGTTGATAGTTGTGGATAACCAGTATCCCCAGGGGTGGGGCCTGAGACTGCAGTTAAGGGATTATGAGGTCAGAAGTGGCAGGTGTGGCCAAAAAGTGGAGTAAGGGTAAGGAGAGAAAAACTTGGGTGGGGTATGTTAAAGATTAGTTGGAAAGGGGGGACAACATGGTAAGTCTAACTTTTTTTATTTTTTTTATTTTTTTAGATGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCATCCTCTACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGAGCACACCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCACCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCATTGTAAGTCTAACTCTAAACTAAACCCTGGAATGAGTGCAGGGCACCTGGAAAAAAGTCAGTTTCCAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAAACATGTTCGGGGCAAAAGGGTAATTCTCAAGTGGGGAATGCCAAATGAAGGGGTGCTTACATGGGGGCACAAAATTCCAAATCAGCCACAGTGGGGTGAGGTGAGTATGAGACGCAGGTGGGTTGAATGAAGGAAAGTTAGTACCACTTAGGGCTACAGGACCCTGGGGTTCTTCTGTCAGAGGATTGGGGTTCAGGTTTCAGGCTTTAGGGTGTAACATGGGGGGGCCCAGTAGGGGCTATGCTGGTTGCATGGGGAGGCCCCAGGCCCCTCCCCAAGGGCCCCTCCTTTTGGGGGAATCTCACTGACGAGGCAGAGTCGTTCACTGTAGTCTGGCTGCAGACTCTCAGCCAGTCCCTTAGACACACCACTCCAGGCCTAAAGACAGATATGTCCAGGTCAGGGGTCAATTAGGGGCAGGAAGTAAAAGACCGAGCTCTGTGCCAAAGGAGTACTCATGATGTCTGCAACCACTGTAATTGATTACAGAAGGGATACACAGGCTCCTGGGCCCCCAATACCAGTTGCCATCTGCCTCATTCAATCTATAATCTGCACTTCTGTGTGTGTCTCTCTCTGTATAGTCCATGCCCCATTTGGTCGGCCACATCCTGACAGTTAGTGCAGGGCCTCCTTCCCTCTCCTCTCTGCCCCCACCCCCACACTCTGTCTGTCTTGCTGGCAGGCAGTTGGCAGTTGATAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACTGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAG
Task1_train_30269
A sequence alteration has been identified in IL2RG (interleukin 2 receptor subunit gamma) on Chromosome X. Is it disease-inducing or harmless?
Pathogenic; X-linked severe combined immunodeficiency
AAACTAAACCCTGGAATGAGTGCAGGGCACCTGGAAAAAAGTCAGTTTCCAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAAACATGTTCGGGGCAAAAGGGTAATTCTCAAGTGGGGAATGCCAAATGAAGGGGTGCTTACATGGGGGCACAAAATTCCAAATCAGCCACAGTGGGGTGAGGTGAGTATGAGACGCAGGTGGGTTGAATGAAGGAAAGTTAGTACCACTTAGGGCTACAGGACCCTGGGGTTCTTCTGTCAGAGGATTGGGGTTCAGGTTTCAGGCTTTAGGGTGTAACATGGGGGGGCCCAGTAGGGGCTATGCTGGTTGCATGGGGAGGCCCCAGGCCCCTCCCCAAGGGCCCCTCCTTTTGGGGGAATCTCACTGACGAGGCAGAGTCGTTCACTGTAGTCTGGCTGCAGACTCTCAGCCAGTCCCTTAGACACACCACTCCAGGCCTAAAGACAGATATGTCCAGGTCAGGGGTCAATTAGGGGCAGGAAGTAAAAGACCGAGCTCTGTGCCAAAGGAGTACTCATGATGTCTGCAACCACTGTAATTGATTACAGAAGGGATACACAGGCTCCTGGGCCCCCAATACCAGTTGCCATCTGCCTCATTCAATCTATAATCTGCACTTCTGTGTGTGTCTCTCTCTGTATAGTCCATGCCCCATTTGGTCGGCCACATCCTGACAGTTAGTGCAGGGCCTCCTTCCCTCTCCTCTCTGCCCCCACCCCCACACTCTGTCTGTCTTGCTGGCAGGCAGTTGGCAGTTGATAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAAT
AAACTAAACCCTGGAATGAGTGCAGGGCACCTGGAAAAAAGTCAGTTTCCAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAAACATGTTCGGGGCAAAAGGGTAATTCTCAAGTGGGGAATGCCAAATGAAGGGGTGCTTACATGGGGGCACAAAATTCCAAATCAGCCACAGTGGGGTGAGGTGAGTATGAGACGCAGGTGGGTTGAATGAAGGAAAGTTAGTACCACTTAGGGCTACAGGACCCTGGGGTTCTTCTGTCAGAGGATTGGGGTTCAGGTTTCAGGCTTTAGGGTGTAACATGGGGGGGCCCAGTAGGGGCTATGCTGGTTGCATGGGGAGGCCCCAGGCCCCTCCCCAAGGGCCCCTCCTTTTGGGGGAATCTCACTGACGAGGCAGAGTCGTTCACTGTAGTCTGGCTGCAGACTCTCAGCCAGTCCCTTAGACACACCACTCCAGGCCTAAAGACAGATATGTCCAGGTCAGGGGTCAATTAGGGGCAGGAAGTAAAAGACCGAGCTCTGTGCCAAAGGAGTACTCATGATGTCTGCAACCACTGTAATTGATTACAGAAGGGATACACAGGCTCCTGGGCCCCCAATACCAGTTGCCATCTGCCTCATTCAATCTATAATCTGCACTTCTGTGTGTGTCTCTCTCTGTATAGTCCATGCCCCATTTGGTCGGCCACATCCTGACAGTTAGTGCAGGGCCTCCTTCCCTCTCCTCTCTGCCCCCACCCCCACACTCTGTCTGTCTTGCTGGCAGGCAGTTGGCAGTTGATAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCATTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAAT
Task1_train_30270
Consider a variant on Chromosome X in gene IL2RG (interleukin 2 receptor subunit gamma). Determine its clinical classification and disease relevance.
Pathogenic; X-linked severe combined immunodeficiency
AAAAGTCAGTTTCCAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAAACATGTTCGGGGCAAAAGGGTAATTCTCAAGTGGGGAATGCCAAATGAAGGGGTGCTTACATGGGGGCACAAAATTCCAAATCAGCCACAGTGGGGTGAGGTGAGTATGAGACGCAGGTGGGTTGAATGAAGGAAAGTTAGTACCACTTAGGGCTACAGGACCCTGGGGTTCTTCTGTCAGAGGATTGGGGTTCAGGTTTCAGGCTTTAGGGTGTAACATGGGGGGGCCCAGTAGGGGCTATGCTGGTTGCATGGGGAGGCCCCAGGCCCCTCCCCAAGGGCCCCTCCTTTTGGGGGAATCTCACTGACGAGGCAGAGTCGTTCACTGTAGTCTGGCTGCAGACTCTCAGCCAGTCCCTTAGACACACCACTCCAGGCCTAAAGACAGATATGTCCAGGTCAGGGGTCAATTAGGGGCAGGAAGTAAAAGACCGAGCTCTGTGCCAAAGGAGTACTCATGATGTCTGCAACCACTGTAATTGATTACAGAAGGGATACACAGGCTCCTGGGCCCCCAATACCAGTTGCCATCTGCCTCATTCAATCTATAATCTGCACTTCTGTGTGTGTCTCTCTCTGTATAGTCCATGCCCCATTTGGTCGGCCACATCCTGACAGTTAGTGCAGGGCCTCCTTCCCTCTCCTCTCTGCCCCCACCCCCACACTCTGTCTGTCTTGCTGGCAGGCAGTTGGCAGTTGATAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCAC
AAAAGTCAGTTTCCAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAAACATGTTCGGGGCAAAAGGGTAATTCTCAAGTGGGGAATGCCAAATGAAGGGGTGCTTACATGGGGGCACAAAATTCCAAATCAGCCACAGTGGGGTGAGGTGAGTATGAGACGCAGGTGGGTTGAATGAAGGAAAGTTAGTACCACTTAGGGCTACAGGACCCTGGGGTTCTTCTGTCAGAGGATTGGGGTTCAGGTTTCAGGCTTTAGGGTGTAACATGGGGGGGCCCAGTAGGGGCTATGCTGGTTGCATGGGGAGGCCCCAGGCCCCTCCCCAAGGGCCCCTCCTTTTGGGGGAATCTCACTGACGAGGCAGAGTCGTTCACTGTAGTCTGGCTGCAGACTCTCAGCCAGTCCCTTAGACACACCACTCCAGGCCTAAAGACAGATATGTCCAGGTCAGGGGTCAATTAGGGGCAGGAAGTAAAAGACCGAGCTCTGTGCCAAAGGAGTACTCATGATGTCTGCAACCACTGTAATTGATTACAGAAGGGATACACAGGCTCCTGGGCCCCCAATACCAGTTGCCATCTGCCTCATTCAATCTATAATCTGCACTTCTGTGTGTGTCTCTCTCTGTATAGTCCATGCCCCATTTGGTCGGCCACATCCTGACAGTTAGTGCAGGGCCTCCTTCCCTCTCCTCTCTGCCCCCACCCCCACACTCTGTCTGTCTTGCTGGCAGGCAGTTGGCAGTTGATAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGTGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCAC
Task1_train_30271
A sequence alteration has been identified in IL2RG (interleukin 2 receptor subunit gamma) on Chromosome X. Is it disease-inducing or harmless?
Pathogenic; X-linked severe combined immunodeficiency
AAAGTCAGTTTCCAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAAACATGTTCGGGGCAAAAGGGTAATTCTCAAGTGGGGAATGCCAAATGAAGGGGTGCTTACATGGGGGCACAAAATTCCAAATCAGCCACAGTGGGGTGAGGTGAGTATGAGACGCAGGTGGGTTGAATGAAGGAAAGTTAGTACCACTTAGGGCTACAGGACCCTGGGGTTCTTCTGTCAGAGGATTGGGGTTCAGGTTTCAGGCTTTAGGGTGTAACATGGGGGGGCCCAGTAGGGGCTATGCTGGTTGCATGGGGAGGCCCCAGGCCCCTCCCCAAGGGCCCCTCCTTTTGGGGGAATCTCACTGACGAGGCAGAGTCGTTCACTGTAGTCTGGCTGCAGACTCTCAGCCAGTCCCTTAGACACACCACTCCAGGCCTAAAGACAGATATGTCCAGGTCAGGGGTCAATTAGGGGCAGGAAGTAAAAGACCGAGCTCTGTGCCAAAGGAGTACTCATGATGTCTGCAACCACTGTAATTGATTACAGAAGGGATACACAGGCTCCTGGGCCCCCAATACCAGTTGCCATCTGCCTCATTCAATCTATAATCTGCACTTCTGTGTGTGTCTCTCTCTGTATAGTCCATGCCCCATTTGGTCGGCCACATCCTGACAGTTAGTGCAGGGCCTCCTTCCCTCTCCTCTCTGCCCCCACCCCCACACTCTGTCTGTCTTGCTGGCAGGCAGTTGGCAGTTGATAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACC
AAAGTCAGTTTCCAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAAACATGTTCGGGGCAAAAGGGTAATTCTCAAGTGGGGAATGCCAAATGAAGGGGTGCTTACATGGGGGCACAAAATTCCAAATCAGCCACAGTGGGGTGAGGTGAGTATGAGACGCAGGTGGGTTGAATGAAGGAAAGTTAGTACCACTTAGGGCTACAGGACCCTGGGGTTCTTCTGTCAGAGGATTGGGGTTCAGGTTTCAGGCTTTAGGGTGTAACATGGGGGGGCCCAGTAGGGGCTATGCTGGTTGCATGGGGAGGCCCCAGGCCCCTCCCCAAGGGCCCCTCCTTTTGGGGGAATCTCACTGACGAGGCAGAGTCGTTCACTGTAGTCTGGCTGCAGACTCTCAGCCAGTCCCTTAGACACACCACTCCAGGCCTAAAGACAGATATGTCCAGGTCAGGGGTCAATTAGGGGCAGGAAGTAAAAGACCGAGCTCTGTGCCAAAGGAGTACTCATGATGTCTGCAACCACTGTAATTGATTACAGAAGGGATACACAGGCTCCTGGGCCCCCAATACCAGTTGCCATCTGCCTCATTCAATCTATAATCTGCACTTCTGTGTGTGTCTCTCTCTGTATAGTCCATGCCCCATTTGGTCGGCCACATCCTGACAGTTAGTGCAGGGCCTCCTTCCCTCTCCTCTCTGCCCCCACCCCCACACTCTGTCTGTCTTGCTGGCAGGCAGTTGGCAGTTGATAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCAGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACC
Task1_train_30272
This variant lies on Chromosome X and affects the gene IL2RG (interleukin 2 receptor subunit gamma). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; X-linked severe combined immunodeficiency
CAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAAACATGTTCGGGGCAAAAGGGTAATTCTCAAGTGGGGAATGCCAAATGAAGGGGTGCTTACATGGGGGCACAAAATTCCAAATCAGCCACAGTGGGGTGAGGTGAGTATGAGACGCAGGTGGGTTGAATGAAGGAAAGTTAGTACCACTTAGGGCTACAGGACCCTGGGGTTCTTCTGTCAGAGGATTGGGGTTCAGGTTTCAGGCTTTAGGGTGTAACATGGGGGGGCCCAGTAGGGGCTATGCTGGTTGCATGGGGAGGCCCCAGGCCCCTCCCCAAGGGCCCCTCCTTTTGGGGGAATCTCACTGACGAGGCAGAGTCGTTCACTGTAGTCTGGCTGCAGACTCTCAGCCAGTCCCTTAGACACACCACTCCAGGCCTAAAGACAGATATGTCCAGGTCAGGGGTCAATTAGGGGCAGGAAGTAAAAGACCGAGCTCTGTGCCAAAGGAGTACTCATGATGTCTGCAACCACTGTAATTGATTACAGAAGGGATACACAGGCTCCTGGGCCCCCAATACCAGTTGCCATCTGCCTCATTCAATCTATAATCTGCACTTCTGTGTGTGTCTCTCTCTGTATAGTCCATGCCCCATTTGGTCGGCCACATCCTGACAGTTAGTGCAGGGCCTCCTTCCCTCTCCTCTCTGCCCCCACCCCCACACTCTGTCTGTCTTGCTGGCAGGCAGTTGGCAGTTGATAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTAC
CAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAAACATGTTCGGGGCAAAAGGGTAATTCTCAAGTGGGGAATGCCAAATGAAGGGGTGCTTACATGGGGGCACAAAATTCCAAATCAGCCACAGTGGGGTGAGGTGAGTATGAGACGCAGGTGGGTTGAATGAAGGAAAGTTAGTACCACTTAGGGCTACAGGACCCTGGGGTTCTTCTGTCAGAGGATTGGGGTTCAGGTTTCAGGCTTTAGGGTGTAACATGGGGGGGCCCAGTAGGGGCTATGCTGGTTGCATGGGGAGGCCCCAGGCCCCTCCCCAAGGGCCCCTCCTTTTGGGGGAATCTCACTGACGAGGCAGAGTCGTTCACTGTAGTCTGGCTGCAGACTCTCAGCCAGTCCCTTAGACACACCACTCCAGGCCTAAAGACAGATATGTCCAGGTCAGGGGTCAATTAGGGGCAGGAAGTAAAAGACCGAGCTCTGTGCCAAAGGAGTACTCATGATGTCTGCAACCACTGTAATTGATTACAGAAGGGATACACAGGCTCCTGGGCCCCCAATACCAGTTGCCATCTGCCTCATTCAATCTATAATCTGCACTTCTGTGTGTGTCTCTCTCTGTATAGTCCATGCCCCATTTGGTCGGCCACATCCTGACAGTTAGTGCAGGGCCTCCTTCCCTCTCCTCTCTGCCCCCACCCCCACACTCTGTCTGTCTTGCTGGCAGGCAGTTGGCAGTTGATAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACAAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTAC
Task1_train_30273
This sequence variant lies in IL2RG (interleukin 2 receptor subunit gamma) on Chromosome X. Is it clinically significant, and what condition might it cause if any?
Pathogenic; X-linked severe combined immunodeficiency
TAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTC
TAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGTTCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTC
Task1_train_30274
A variant on Chromosome X in gene IL2RG (interleukin 2 receptor subunit gamma) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; X-linked severe combined immunodeficiency
ACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCC
ACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCCCTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCC
Task1_train_30275
Consider this mutation in IL2RG (interleukin 2 receptor subunit gamma) on Chromosome X. Is this a benign change or a disease-causing variant?
Pathogenic; X-linked severe combined immunodeficiency
CTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGC
CTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCGGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGC
Task1_train_30276
A variant affecting Chromosome X, within the gene IL2RG (interleukin 2 receptor subunit gamma), has been observed. Determine if it's benign or associated with disease.
Pathogenic; X-linked severe combined immunodeficiency
CCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCACAGAAAAGTGGGGAAGAC
CCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACGGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCACAGAAAAGTGGGGAAGAC
Task1_train_30277
A variant was discovered in gene IL2RG (interleukin 2 receptor subunit gamma), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; X-linked severe combined immunodeficiency
CTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCACAGAAAAGTGGGGAAGACAT
CTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGTCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCACAGAAAAGTGGGGAAGACAT
Task1_train_30278
A genomic change on Chromosome X affects IL2RG (interleukin 2 receptor subunit gamma). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; X-linked severe combined immunodeficiency
TAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCACAGAAAAGTGGGGAAGACATAAACAAGTAATACAACATAGTGTAACAAGTCCTATAGCATAAATGTAGAGATACTACAAAGTATGTGAGCACAGAAGAGGAAGTAACTAAATTTACCAAGATGGAGAGGGGGATAGTTTAGTGAAGGCTGTGCTGAAGAGGTGCTATTTCAGTGGCATCTTAAAGAATGAGTGTAATTTTACCAGACAGAAAGTGGTGTAGGATATTAAGCAAAGAAAAACAGCACTTGCCTGGGAGTCTCAGGAAAACTGGACTATATGGCCCAGCTTAGTATTTAGTATGTATCTTTAGTATGTATTAGTTTGCTAGGGCTGCCATAAGTTATCCCCAAACTGAGTGGCTTAAAC
TAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTTGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCACAGAAAAGTGGGGAAGACATAAACAAGTAATACAACATAGTGTAACAAGTCCTATAGCATAAATGTAGAGATACTACAAAGTATGTGAGCACAGAAGAGGAAGTAACTAAATTTACCAAGATGGAGAGGGGGATAGTTTAGTGAAGGCTGTGCTGAAGAGGTGCTATTTCAGTGGCATCTTAAAGAATGAGTGTAATTTTACCAGACAGAAAGTGGTGTAGGATATTAAGCAAAGAAAAACAGCACTTGCCTGGGAGTCTCAGGAAAACTGGACTATATGGCCCAGCTTAGTATTTAGTATGTATCTTTAGTATGTATTAGTTTGCTAGGGCTGCCATAAGTTATCCCCAAACTGAGTGGCTTAAAC
Task1_train_30279
Gene IL2RG, LOC126863274 (interleukin 2 receptor subunit gamma| MED14-independent group 3 enhancer GRCh37_chrX:70330888-70332087) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; not provided
CAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCACAGAAAAGTGGGGAAGACATAAACAAGTAATACAACATAGTGTAACAAGTCCTATAGCATAAATGTAGAGATACTACAAAGTATGTGAGCACAGAAGAGGAAGTAACTAAATTTACCAAGATGGAGAGGGGGATAGTTTAGTGAAGGCTGTGCTGAAGAGGTGCTATTTCAGTGGCATCTTAAAGAATGAGTGTAATTTTACCAGACAGAAAGTGGTGTAGGATATTAAGCAAAGAAAAACAGCACTTGCCTGGGAGTCTCAGGAAAACTGGACTATATGGCCCAGCTTAGTATTTAGTATGTATCTTTAGTATGTATTAGTTTGCTAGGGCTGCCATAAGTTATCCCCAAACTGAGTGGCTTAAACCAACAGAAATTTATTCTCTCGGCTGGGTGCAGTGACTCACGCCTGCAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATTGCTTGAGGAGTTCGAGACCAGCCTGGCCAACCTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACATGGTGGCAACACCTGTAATCCCAGCTACTCGGGAGGCTGAAACATGAGAATCGCTTGAATCTAGGAGGCAGAGGTTGCAGTGAGCCAAAATTGCGCCACTGCACTCTAGCCTGTGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAAATAAATAAATAAAAATTTTTTAAAAAGGAAAAAAAGGCATTTATTTTCTCACAGTTCTGGAGCCCAGAAGTCCGAAATCAGTGTGGCCAGGGTTGGTCCCTTCTGGAGGCGCTGAGGAAGAAGTTGTTCCATGCCTCTCTTCTAGCTTCTGGTGGCTGCCGTCGATCCTTGGTGCTCCTTGGCTTGTAGACACATCATTCCAATCTCTGCCTCCATCTTTGCATTACCTCTTCTTCTTCTCTGCATCTCCTTTATCCTTCTCTT
CAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACGTGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCACAGAAAAGTGGGGAAGACATAAACAAGTAATACAACATAGTGTAACAAGTCCTATAGCATAAATGTAGAGATACTACAAAGTATGTGAGCACAGAAGAGGAAGTAACTAAATTTACCAAGATGGAGAGGGGGATAGTTTAGTGAAGGCTGTGCTGAAGAGGTGCTATTTCAGTGGCATCTTAAAGAATGAGTGTAATTTTACCAGACAGAAAGTGGTGTAGGATATTAAGCAAAGAAAAACAGCACTTGCCTGGGAGTCTCAGGAAAACTGGACTATATGGCCCAGCTTAGTATTTAGTATGTATCTTTAGTATGTATTAGTTTGCTAGGGCTGCCATAAGTTATCCCCAAACTGAGTGGCTTAAACCAACAGAAATTTATTCTCTCGGCTGGGTGCAGTGACTCACGCCTGCAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATTGCTTGAGGAGTTCGAGACCAGCCTGGCCAACCTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACATGGTGGCAACACCTGTAATCCCAGCTACTCGGGAGGCTGAAACATGAGAATCGCTTGAATCTAGGAGGCAGAGGTTGCAGTGAGCCAAAATTGCGCCACTGCACTCTAGCCTGTGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAAATAAATAAATAAAAATTTTTTAAAAAGGAAAAAAAGGCATTTATTTTCTCACAGTTCTGGAGCCCAGAAGTCCGAAATCAGTGTGGCCAGGGTTGGTCCCTTCTGGAGGCGCTGAGGAAGAAGTTGTTCCATGCCTCTCTTCTAGCTTCTGGTGGCTGCCGTCGATCCTTGGTGCTCCTTGGCTTGTAGACACATCATTCCAATCTCTGCCTCCATCTTTGCATTACCTCTTCTTCTTCTCTGCATCTCCTTTATCCTTCTCTT
Task1_train_30280
Here is a variant affecting MED12 (mediator complex subunit 12) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; MED12-related intellectual disability syndrome
TGCGGTACCCTTGGGCAGAAAAACAAACAAGAAAAGGTTAGACAACTCGATGGTAGACCTTGAGGGATTAGAGCCAGCCTTTCAGGGTTTAATAGGTTCTTTCTCATGCATACATAGTTTCTAATGTTCACAATAGCCCCTTGAAGGAGGTGTTAGCGCACCTATTTTTCAGATGCCGGAACTAAGAAACGAACTGATCTGTAATAGACGGAGTTCCTAACCAATGCAAATATTATTGAAGACTTTTCTAGGCCAAAACCGAGCTAGGCTATGGGAACCGAAGTCCAGTCAGAACTCAGCACCACAGAGGCCTCCTTCTTCCCTGGTTTGCATCCCCAGCTCATTCTGCGCCTCCGGAACGTTTCATAGATTTTTGCTGAGTGAAATCGACTTGCTGCCGCCACCGCCGAAAAACTCCCGGGGCACAGAGCTCCGCCCCCACCGGGCCAGGCCCCACCTCCTCTGCAGTCGGTATTGTCCGATGGTTCCCGGCGTACCTCGGCTTCCCTCGGTAGTTTCCGGCAATGGTCGAGAGTTTCTAACGTGCCCCCTTGTTGTCTCTCGGCCGCCGTCCTCTCAACCACCGCCCCCCTTTTCGGCTCCCTCTCCCCCTTCCCGTTCCCCCAGTCAGCCTGGCCCTGCTGGTGCCTCCGGCGCTACGGGCTGGGCAAGATGGCGGCCTTCGGGATCTTGAGCTACGAACACCGGCCCCTGAAGCGGCCGCGGCTGGGGCCTCCCGATGTTTACCCTCAGGACCCCAAACAGAAGGAGGTGCGTTCGAAAATCGGGGCTCTGGAGGGGCCGGGGGCACGCGGTCAGCCTAGGAGGAGGCACTGACGGCTGGGAATGGGGGGCGGGGCGGTTCGGTGAGAGCAAAAGTCCCGAAAGGGGGAAGAGTAAAGTGGGCTGGCGTGGGAGGGCAGGACGGGGGGCGGTGGGGGGTTCCAAGGTATGAATAGGGGGTGGTGTAGGGGCCGCACCAGAGGCGCCCTCCTCCACACACACCTCAGAAAGTTGTCTGAGACAGCTTGGTGGGGTACGGCTGCTCGGCTGTTCGCAAGAGAAGAGTGATGTTTGAGGGCGCGCTGGGTGGCTGGGAATCCTAGTGACCATGGGAGTGAGGGTGGGGTCCAAGTGAACGTAAGGGCCCAGCTTTAAGTAACGATCTGTTCTACACGGAACCCTCCTCCTGCCCTTTCACCTTGTTCCTTCTTTTCTCCTGCCCTACTCTCCCACCCCTTCCCCCTTCCCCTAAGGAAAAAACAACTAAACGCCGCTTTCCTGCCTCAGGATGAACTGACGGCCTTGAATGTAAAACAAGGTTTCAATAACCAGCCTGCTGTCTCTGGGGATGAGCATGGCAGTGCCAAGAACGTCAGCTTCAATCCTGCCAAGGTGAGACAACTCTGCCAGGCTGAAGGAAAAGGCTGGAAGAATCTAAGAAGGAGCAAAGGCCCTGGGTTGGGAAGACTTATAGGGACAACCTAAGTGGCTGAGTTTGCCTTCATGACCTAATACTATCTCATTGGCATTTGCCCAGCAAAAGGCAGGACCACCTGTCTGCCCCTTCTTCCCACCCTGAGGTACACTTTTCTTCCCTCAGATCAGTTCCAACTTCAGCAGCATTATTGCAGAGAAATTACGTTGTAATACCCTTCCTGACACTGGTCGCAGGAAGCCCCAAGTGAACCAGAAGGATAACTTCTGGCTGGTGACTGCACGATCCCAGAGTGCCATTAACACTTGGTTCACTGACTTGGCTGGCACCAAGCCACTCACGCAACTAGCCAAAAAGGTAAGGTACTGTTTCCTGTCCTTCAGGCCAAGGAGGGAGCATGGGGTACCAAGTACCCTCCTATTCCCATATTAAGCTACATGGGTGTCAGCTCATGGGGATAATAGAGACCTCACTATTTGCAATGTCCATCCAGGTCCCCATTTTCAGTAAGAAGGAAGAGGTGTTTGGGTACTTAGCCAAATACACAGTGCCTGTGATGCGGGCTGCCTGGCTCATTAAGATGACCTGTGCCTACTATGCAGCAATCTCTGAGACCAAGGTTAAGAAGAGACATGTTGACCCTTTCATGGGTGAGTAACTCCTAACACCAGGTGTACTGCTGATGGCTTCAAGGAGTGATAGAGACACCCTTGGAACCATCCTCCTTCTTAATCTAGATTCCTTGTTTCTGCTTGTTTCTTGCATTTGTTTGATCAGTAAACACTGAGAAATTTGAGTGTCTACTGTGCGCATATACTGGGCTACAAAGATGTCCGGTGCATAATCTCTGCCCCTAGGATACTAGTAGTCTAACAGGGCTGCTAAGGTATATGTACAAATAACATAATTAAATATAGAAAGTGGTGAATGTCAAGCTAGGAGCAGAAGGTTCTTTGAGTGGACAAAAGATTACTTTCTTATGGGGGTACCCGGAAAGGCTTTAGGAAGGTGGGATTTGACTAGAGACTAAAAGGATGAACTGAATTTACAAATATGGTGATTAGGGGTGGGGGTAAGGTATTCTAAGTAGAAGGATTTTTTTTTTTTTGAGACAGAGCAAGACTCTGTCACCCAGGCTAGAGTGCAGTGGCAGGATCTTGGCTTACTGCAACCTCCACCTCCCGGGTTAAAGTGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCACTGCGCCCGGCTAATTTTTGTATTTTTCTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGTAGAAGGATATTCTAAGCAGAAGGATAGTATCAAATAGCCCTTTTTCCCTCTTTCCTCCAGAATGGACTCAGATCATCACCAAGTACTTATGGGAGCAGTTACAGAAGATGGCTGAATACTACCGGCCAGGGCCTGCAGGAAGTGGGGGCTGTGGTTCCACGATAGGGCCCTTGCCCCATGATGTAGAGGTGGCAATCCGGCAGTGGGATTACACCGAGAAGCTGGCCATGTTCATGTTTCAGGTAGAGAGTAGGGCATGCTGTGTGGGGCATTGGGTTGAGCTTGAACTTGTACTCTGCCAGTAGAGAACAGAATCTGCCTGCCACCTTGCCCCAGTTGTGGTTCTCTTCATCTTTTCATTTACTTTATCTGCTTCATCTCTAATAGTCCCCTCTTCCCTCCCCTGGTACCCATAGGATGGAATGCTGGACAGACATGAGTTCCTGACCTGGGTGCTTGAGTGTTTTGAGAAGATCCGCCCTGGAGAGGATGAATTGCTTAAACTGCTGCTGCCTCTGCTTCTCCGAGTAAGGCTTGGAATTTTGGTACTGGTGGGGCAGGGGGAGTCTAAGAAGAATTTGAGGAAGAATAAAATGTTAGAGCAGGGTCCCCTGGAGAGAACTAGGGGCTCTGATGGTCGTGTCTTCACAGTACTCTGGGGAATTTGTTCAGTCTGCATACCTGTCCCGCCGGCTTGCCTACTTCTGTACACGGAGACTGGCCCTGCAGCTGGATGGTGTGAGCAGTCACTCATCTCATGTTATATCTGCTCAGTCAACAAGCACGCTACCCACCACCCCTGCTCCTCAGCCCCCAACTAGCAGCACACCCTCGACTCCCTTTAGTGACCTGCTTATGTGCCCTCAGCACCGGCCCCTGGTTTTTGGCCTCAGCTGTATCCTACAGGTAGGTACTAGGCGGGCCCAAGGAAGCATTGAGAGATAGCCTGAGAAGAATCAGGTGCCCATCCCAGAGAATAGGGGTAATTCCAAATTGGATGTGGGAGTAGGTGCTGAGTACTTGCTTGGAGGTTGTTGTTTCTTGGTAATGGGGTGTTAGTCCCCTTTGGGGGTTTTCACCAGCCTCTCTCTCCCTTCCAAGGCTAAATAGTGGGCCCAAAGCCTTTTAGGAAAGTGAGTGAAGGGAGGGGATCGGGGTGGAGTGATGCCTGTCTTGGGGACCCAGTCAGAATAACTTTGGATCTGGAATCTACGGGTTGGGTCTTAGAATGGGATTCCAGAGGGGTAACCATGGTGAATGAGTTGGAC
TGCGGTACCCTTGGGCAGAAAAACAAACAAGAAAAGGTTAGACAACTCGATGGTAGACCTTGAGGGATTAGAGCCAGCCTTTCAGGGTTTAATAGGTTCTTTCTCATGCATACATAGTTTCTAATGTTCACAATAGCCCCTTGAAGGAGGTGTTAGCGCACCTATTTTTCAGATGCCGGAACTAAGAAACGAACTGATCTGTAATAGACGGAGTTCCTAACCAATGCAAATATTATTGAAGACTTTTCTAGGCCAAAACCGAGCTAGGCTATGGGAACCGAAGTCCAGTCAGAACTCAGCACCACAGAGGCCTCCTTCTTCCCTGGTTTGCATCCCCAGCTCATTCTGCGCCTCCGGAACGTTTCATAGATTTTTGCTGAGTGAAATCGACTTGCTGCCGCCACCGCCGAAAAACTCCCGGGGCACAGAGCTCCGCCCCCACCGGGCCAGGCCCCACCTCCTCTGCAGTCGGTATTGTCCGATGGTTCCCGGCGTACCTCGGCTTCCCTCGGTAGTTTCCGGCAATGGTCGAGAGTTTCTAACGTGCCCCCTTGTTGTCTCTCGGCCGCCGTCCTCTCAACCACCGCCCCCCTTTTCGGCTCCCTCTCCCCCTTCCCGTTCCCCCAGTCAGCCTGGCCCTGCTGGTGCCTCCGGCGCTACGGGCTGGGCAAGATGGCGGCCTTCGGGATCTTGAGCTACGAACACCGGCCCCTGAAGCGGCCGCGGCTGGGGCCTCCCGATGTTTACCCTCAGGACCCCAAACAGAAGGAGGTGCGTTCGAAAATCGGGGCTCTGGAGGGGCCGGGGGCACGCGGTCAGCCTAGGAGGAGGCACTGACGGCTGGGAATGGGGGGCGGGGCGGTTCGGTGAGAGCAAAAGTCCCGAAAGGGGGAAGAGTAAAGTGGGCTGGCGTGGGAGGGCAGGACGGGGGGCGGTGGGGGGTTCCAAGGTATGAATAGGGGGTGGTGTAGGGGCCGCACCAGAGGCGCCCTCCTCCACACACACCTCAGAAAGTTGTCTGAGACAGCTTGGTGGGGTACGGCTGCTCGGCTGTTCGCAAGAGAAGAGTGATGTTTGAGGGCGCGCTGGGTGGCTGGGAATCCTAGTGACCATGGGAGTGAGGGTGGGGTCCAAGTGAACGTAAGGGCCCAGCTTTAAGTAACGATCTGTTCTACACGGAACCCTCCTCCTGCCCTTTCACCTTGTTCCTTCTTTTCTCCTGCCCTACTCTCCCACCCCTTCCCCCTTCCCCTAAGGAAAAAACAACTAAACGCCGCTTTCCTGCCTCAGGATGAACTGACGGCCTTGAATGTAAAACAAGGTTTCAATAACCAGCCTGCTGTCTCTGGGGATGAGCATGGCAGTGCCAAGAACGTCAGCTTCAATCCTGCCAAGGTGAGACAACTCTGCCAGGCTGAAGGAAAAGGCTGGAAGAATCTAAGAAGGAGCAAAGGCCCTGGGTTGGGAAGACTTATAGGGACAACCTAAGTGGCTGAGTTTGCCTTCATGACCTAATACTATCTCATTGGCATTTGCCCAGCAAAAGGCAGGACCACCTGTCTGCCCCTTCTTCCCACCCTGAGGTACACTTTTCTTCCCTCAGATCAGTTCCAACTTCAGCAGCATTATTGCAGAGAAATTACGTTGTAATACCCTTCCTGACACTGGTCGCAGGAAGCCCCAAGTGAACCAGAAGGATAACTTCTGGCTGGTGACTGCACGATCCCAGAGTGCCATTAACACTTGGTTCACTGACTTGGCTGGCACCAAGCCACTCACGCAACTAGCCAAAAAGGTAAGGTACTGTTTCCTGTCCTTCAGGCCAAGGAGGGAGCATGGGGTACCAAGTACCCTCCTATTCCCATATTAAGCTACATGGGTGTCAGCTCATGGGGATAATAGAGACCTCACTATTTGCAATGTCCATCCAGGTCCCCATTTTCAGTAAGAAGGAAGAGGTGTTTGGGTACTTAGCCAAATACACAGTGCCTGTGATGCGGGCTGCCTGGCTCATTAAGATGACCTGTGCCTACTATGCAGCAATCTCTCAGACCAAGGTTAAGAAGAGACATGTTGACCCTTTCATGGGTGAGTAACTCCTAACACCAGGTGTACTGCTGATGGCTTCAAGGAGTGATAGAGACACCCTTGGAACCATCCTCCTTCTTAATCTAGATTCCTTGTTTCTGCTTGTTTCTTGCATTTGTTTGATCAGTAAACACTGAGAAATTTGAGTGTCTACTGTGCGCATATACTGGGCTACAAAGATGTCCGGTGCATAATCTCTGCCCCTAGGATACTAGTAGTCTAACAGGGCTGCTAAGGTATATGTACAAATAACATAATTAAATATAGAAAGTGGTGAATGTCAAGCTAGGAGCAGAAGGTTCTTTGAGTGGACAAAAGATTACTTTCTTATGGGGGTACCCGGAAAGGCTTTAGGAAGGTGGGATTTGACTAGAGACTAAAAGGATGAACTGAATTTACAAATATGGTGATTAGGGGTGGGGGTAAGGTATTCTAAGTAGAAGGATTTTTTTTTTTTTGAGACAGAGCAAGACTCTGTCACCCAGGCTAGAGTGCAGTGGCAGGATCTTGGCTTACTGCAACCTCCACCTCCCGGGTTAAAGTGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCACTGCGCCCGGCTAATTTTTGTATTTTTCTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGTAGAAGGATATTCTAAGCAGAAGGATAGTATCAAATAGCCCTTTTTCCCTCTTTCCTCCAGAATGGACTCAGATCATCACCAAGTACTTATGGGAGCAGTTACAGAAGATGGCTGAATACTACCGGCCAGGGCCTGCAGGAAGTGGGGGCTGTGGTTCCACGATAGGGCCCTTGCCCCATGATGTAGAGGTGGCAATCCGGCAGTGGGATTACACCGAGAAGCTGGCCATGTTCATGTTTCAGGTAGAGAGTAGGGCATGCTGTGTGGGGCATTGGGTTGAGCTTGAACTTGTACTCTGCCAGTAGAGAACAGAATCTGCCTGCCACCTTGCCCCAGTTGTGGTTCTCTTCATCTTTTCATTTACTTTATCTGCTTCATCTCTAATAGTCCCCTCTTCCCTCCCCTGGTACCCATAGGATGGAATGCTGGACAGACATGAGTTCCTGACCTGGGTGCTTGAGTGTTTTGAGAAGATCCGCCCTGGAGAGGATGAATTGCTTAAACTGCTGCTGCCTCTGCTTCTCCGAGTAAGGCTTGGAATTTTGGTACTGGTGGGGCAGGGGGAGTCTAAGAAGAATTTGAGGAAGAATAAAATGTTAGAGCAGGGTCCCCTGGAGAGAACTAGGGGCTCTGATGGTCGTGTCTTCACAGTACTCTGGGGAATTTGTTCAGTCTGCATACCTGTCCCGCCGGCTTGCCTACTTCTGTACACGGAGACTGGCCCTGCAGCTGGATGGTGTGAGCAGTCACTCATCTCATGTTATATCTGCTCAGTCAACAAGCACGCTACCCACCACCCCTGCTCCTCAGCCCCCAACTAGCAGCACACCCTCGACTCCCTTTAGTGACCTGCTTATGTGCCCTCAGCACCGGCCCCTGGTTTTTGGCCTCAGCTGTATCCTACAGGTAGGTACTAGGCGGGCCCAAGGAAGCATTGAGAGATAGCCTGAGAAGAATCAGGTGCCCATCCCAGAGAATAGGGGTAATTCCAAATTGGATGTGGGAGTAGGTGCTGAGTACTTGCTTGGAGGTTGTTGTTTCTTGGTAATGGGGTGTTAGTCCCCTTTGGGGGTTTTCACCAGCCTCTCTCTCCCTTCCAAGGCTAAATAGTGGGCCCAAAGCCTTTTAGGAAAGTGAGTGAAGGGAGGGGATCGGGGTGGAGTGATGCCTGTCTTGGGGACCCAGTCAGAATAACTTTGGATCTGGAATCTACGGGTTGGGTCTTAGAATGGGATTCCAGAGGGGTAACCATGGTGAATGAGTTGGAC
Task1_train_30281
Consider this mutation in LOC126863275, MED12 (BRD4-independent group 4 enhancer GRCh37_chrX:70342400-70343599| mediator complex subunit 12) on Chromosome X. Is this a benign change or a disease-causing variant?
Pathogenic; FG syndrome
CGGCAGTGGGATTACACCGAGAAGCTGGCCATGTTCATGTTTCAGGTAGAGAGTAGGGCATGCTGTGTGGGGCATTGGGTTGAGCTTGAACTTGTACTCTGCCAGTAGAGAACAGAATCTGCCTGCCACCTTGCCCCAGTTGTGGTTCTCTTCATCTTTTCATTTACTTTATCTGCTTCATCTCTAATAGTCCCCTCTTCCCTCCCCTGGTACCCATAGGATGGAATGCTGGACAGACATGAGTTCCTGACCTGGGTGCTTGAGTGTTTTGAGAAGATCCGCCCTGGAGAGGATGAATTGCTTAAACTGCTGCTGCCTCTGCTTCTCCGAGTAAGGCTTGGAATTTTGGTACTGGTGGGGCAGGGGGAGTCTAAGAAGAATTTGAGGAAGAATAAAATGTTAGAGCAGGGTCCCCTGGAGAGAACTAGGGGCTCTGATGGTCGTGTCTTCACAGTACTCTGGGGAATTTGTTCAGTCTGCATACCTGTCCCGCCGGCTTGCCTACTTCTGTACACGGAGACTGGCCCTGCAGCTGGATGGTGTGAGCAGTCACTCATCTCATGTTATATCTGCTCAGTCAACAAGCACGCTACCCACCACCCCTGCTCCTCAGCCCCCAACTAGCAGCACACCCTCGACTCCCTTTAGTGACCTGCTTATGTGCCCTCAGCACCGGCCCCTGGTTTTTGGCCTCAGCTGTATCCTACAGGTAGGTACTAGGCGGGCCCAAGGAAGCATTGAGAGATAGCCTGAGAAGAATCAGGTGCCCATCCCAGAGAATAGGGGTAATTCCAAATTGGATGTGGGAGTAGGTGCTGAGTACTTGCTTGGAGGTTGTTGTTTCTTGGTAATGGGGTGTTAGTCCCCTTTGGGGGTTTTCACCAGCCTCTCTCTCCCTTCCAAGGCTAAATAGTGGGCCCAAAGCCTTTTAGGAAAGTGAGTGAAGGGAGGGGATCGGGGTGGAGTGATGCCTGTCTTGGGGACCCAGTCAGAATAACTTTGGATCTGGAATCTACGGGTTGGGTCTTAGAATGGGATTCCAGAGGGGTAACCATGGTGAATGAGTTGGACTTAGCTGTTTCTATCTGGTAGACCATCCTCCTGTGCTGTCCTAGTGCCTTGGTTTGGCACTACTCACTGACTGATAGCAGAATTAAGACCGGCTCACCACTTGACCACTTGCCTATTGCCCCGTCCAACCTGCCCATGCCAGAGGGTAACAGTGCCTTCACTCAGCAGGTATGTCTGACCACTAGCCTGGTACTCTCAGATTGGGCTATGAGGCTAAATTACTCTTTCAGAAGTAGTGATTTGGAGTCTAGTACTATTCTTCTAGCCTGGGGCTCTGGCCTTTTATATGCCTTGGTACATCCTTGTAGCCTTCCTTTTTAACATTGCAGGTCCGTGCAAAGTTGCGGGAGATCGAGCAGCAGATCAAGGAGCGGGGACAGGCAGTTGAAGTTCGCTGGTCTTTCGATAAATGCCAGGAAGCTACTGCAGGTATGTGTCAGAGAACAGATAATAGGAAATATGTTTGAGGAAAGGATGGGGATAGTAAGGACATGTAGATCTAAGAGCCAGAATGCACCGGGCCTCTGGTTCAGTCCCCTTTACCACTTTTCCTCCTTAGGCTTCACCATTGGACGGGTACTTCATACTTTGGAAGTGCTGGACAGCCATAGTTTTGAACGCTCTGACTTCAGCAACTCTCTTGACTCCCTTTGTAACCGAATCTTTGGATTGGGACCTAGCAAGGATGGGCATGAGGTAAGCGAAAAGGGGAATAGAAGGAGCAAAAAACATTGCAAGAGCAATAATATGTCTGAGAGGGAAGTCATGGTGAGGCATTGAAAGCAGAGCATATCTGCAGAAATGATCTTACTGGGCCCAGGATGTTTTATGATAGAGCCCAGTCTTTAGGAAATTGGAACTCATTTCTTTGTCCCCACCCCTACCTTACTCCTCCTTCTCTTCCTTTGTTCTCCAGATCTCCTCAGATGATGATGCTGTGGTGTCATTGCTATGTGAATGGGCTGTCAGCTGCAAGCGTTCTGGTCGGCATCGTGCTATGGTGGTAGCCAAGCTCCTGGAGAAGAGACAGGCGGAGATTGAGGCTGAGGTTAGAGGGCAGAGATAAGAGAACAAGATTGGCCAATGGGAAGGAATTTACTGCGGTTGGAGACCGAGAGATGGAGGTGGTGGAGGGACCAGAGTTGAAGGTGTGAGAACAGAGTAAAGAAGCAAAAGAGAACCTAAAGGCAAAGTTACGGACGTGAGGCGAAAGTAGAGAAGAGTGGATTGTAGTAAGAGTTAGAGATAACATCAAGGCTTCAGTTGGGAGGTGGTAAAGAACATGGAGGTCAGCAGGGGAATGAAAGTGAAAAGCATGGGGTAGAGGTCAAGCAGGTGGTAGTTTAAGGCCTACACATTGAGGAGTGAAGAAGCAGGTAAAAGTCAGTTCTACAATTTGTTCTGTCATCTTGCAGCGTTGTGGAGAATCAGAAGCCGCAGATGAGAAGGGTTCCATCGCCTCTGGCTCCCTTTCTGCTCCCAGTGCTCCCATTTTCCAGGATGTCCTCCTGCAGTTTCTGGATACACAGGCTCCCATGCTGAGTACGGACCCCTACCACTCTCTAGTTACCTCTGCCTAGACTCAGTTACCCACCACTGTCATCAGAAAGCATAATTAACAGCCCTCTGGTCTATATTTCTCTCTTGGGCTCTATGCAGAATGACTTTTAGATGTAGTTCTAGTGATCCTCTTTAACTGGTCATCTTACAGTTAAACAGAGTAGAGAAATACAGAGAAGGATAAAAACAAGAGCTTGTGATTGAAGCATTTTCACTGCATAAATCGCAACAAAGATGTTACATTCCTTTCTGAGATGATGTGTGGGACAGCATGTGGGGTAACCAACCACACTTTGTCCCTCAACAATTTCTGGGATTTCTATTTGATCACTCTTATTATTGCCTTAGGTGTGTCCCTCTCTCTTTTGGCCCACCTTTTTGTGTTCTCCTAACTTATGTTTCCTCATTCCCTTCCTCCAGCGGACCCTCGAAGTGAGAGTGAGCGGGTGGAATTCTTTAACTTAGTACTGCTGTTCTGTGAACTGATTCGACATGATGTTTTCTCCCACAACATGTATACTTGCACTCTCATCTCCCGAGGGGACCTTGCCTTTGGAGCCCCTGGTCCCCGGCCTCCCTCTCCCTTTGATGATCCTGCCGATGACCCAGAGCACAAGGAGGCTGAAGGCAGCAGCAGCAGCAAGCTGGAAGTGAGTGGGCTTTTCCTTGCACTAGATCGTTTCTTCTGACATTTCCATCTTCATGGCTCCCAGGGGCCTCTAAGAGCCTCTTTTGCCTGGGGGAGGGGGGTAGTATTTTTCTTAGCACTTGGTGATTGACCAAGCACTCTCACATCAATTGTTTCATTGGTTCCTCCCATCAGCCTTGTGAGGTACTCTTATCCCCATTTTCAAACTGAAGAAAACAGAGGCCTATACTGGTTAAGTGATTGGATGAGGCTTGACTCCAGATCCTGTGCTTTCCCCAATCTGGTCTTCTCTCTCCACTTCCCCAATGAAGTTTTACAGATGGTGGGAGCCACTCCCTAGGGCTAAAGCAACTTCGCTTATGTTCTATGCCCTCAGGATCCAGGGCTCTCAGAATCTATGGACATTGACCCTAGTTCCAGTGTTCTCTTTGAGGACATGGAGAAGCCTGATTTCTCAGTAAGTTCAATCCTGAGCGTGGCAGAATCTGGATCCTTGGATCTTCCCATTATGCCTGCTTTTGGCATGTTTTTTTGCCCCCTCATCCACTTTCCTTCTTCTCATGTTCTGCTTTCTCACCTTTCTCTCAGTTGTTCTCCCCTACTATGCCCTGTGAGGGGAAGGGCAGTCCATCCCCTGAGAAGCCAGATGTCGAGAAGGAGGTGAAGCCCCCACCCAAGGAGAAGATTGAAGGGACCCTTGGGGTTCTTTACGACCAGCCACGACACGTGCAGTACGCCACCCATTTTCCCATCCCCCAGGTACTATTCCCCAGCACCTTGTGATGATCTGTTTTGAACCCAGATTGCTGTCAAAGG
CGGCAGTGGGATTACACCGAGAAGCTGGCCATGTTCATGTTTCAGGTAGAGAGTAGGGCATGCTGTGTGGGGCATTGGGTTGAGCTTGAACTTGTACTCTGCCAGTAGAGAACAGAATCTGCCTGCCACCTTGCCCCAGTTGTGGTTCTCTTCATCTTTTCATTTACTTTATCTGCTTCATCTCTAATAGTCCCCTCTTCCCTCCCCTGGTACCCATAGGATGGAATGCTGGACAGACATGAGTTCCTGACCTGGGTGCTTGAGTGTTTTGAGAAGATCCGCCCTGGAGAGGATGAATTGCTTAAACTGCTGCTGCCTCTGCTTCTCCGAGTAAGGCTTGGAATTTTGGTACTGGTGGGGCAGGGGGAGTCTAAGAAGAATTTGAGGAAGAATAAAATGTTAGAGCAGGGTCCCCTGGAGAGAACTAGGGGCTCTGATGGTCGTGTCTTCACAGTACTCTGGGGAATTTGTTCAGTCTGCATACCTGTCCCGCCGGCTTGCCTACTTCTGTACACGGAGACTGGCCCTGCAGCTGGATGGTGTGAGCAGTCACTCATCTCATGTTATATCTGCTCAGTCAACAAGCACGCTACCCACCACCCCTGCTCCTCAGCCCCCAACTAGCAGCACACCCTCGACTCCCTTTAGTGACCTGCTTATGTGCCCTCAGCACCGGCCCCTGGTTTTTGGCCTCAGCTGTATCCTACAGGTAGGTACTAGGCGGGCCCAAGGAAGCATTGAGAGATAGCCTGAGAAGAATCAGGTGCCCATCCCAGAGAATAGGGGTAATTCCAAATTGGATGTGGGAGTAGGTGCTGAGTACTTGCTTGGAGGTTGTTGTTTCTTGGTAATGGGGTGTTAGTCCCCTTTGGGGGTTTTCACCAGCCTCTCTCTCCCTTCCAAGGCTAAATAGTGGGCCCAAAGCCTTTTAGGAAAGTGAGTGAAGGGAGGGGATCGGGGTGGAGTGATGCCTGTCTTGGGGACCCAGTCAGAATAACTTTGGATCTGGAATCTACGGGTTGGGTCTTAGAATGGGATTCCAGAGGGGTAACCATGGTGAATGAGTTGGACTTAGCTGTTTCTATCTGGTAGACCATCCTCCTGTGCTGTCCTAGTGCCTTGGTTTGGCACTACTCACTGACTGATAGCAGAATTAAGACCGGCTCACCACTTGACCACTTGCCTATTGCCCCGTCCAACCTGCCCATGCCAGAGGGTAACAGTGCCTTCACTCAGCAGGTATGTCTGACCACTAGCCTGGTACTCTCAGATTGGGCTATGAGGCTAAATTACTCTTTCAGAAGTAGTGATTTGGAGTCTAGTACTATTCTTCTAGCCTGGGGCTCTGGCCTTTTATATGCCTTGGTACATCCTTGTAGCCTTCCTTTTTAACATTGCAGGTCCGTGCAAAGTTGCGGGAGATCGAGCAGCAGATCAAGGAGCGGGGACAGGCAGTTGAAGTTCGCTGGTCTTTCGATAAATGCCAGGAAGCTACTGCAGGTATGTGTCAGAGAACAGATAATAGGAAATATGTTTGAGGAAAGGATGGGGATAGTAAGGACATGTAGATCTAAGAGCCAGAATGCACCGGGCCTCTGGTTCAGTCCCCTTTACCACTTTTCCTCCTTAGGCTTCACCATTGGACGGGTACTTCATACTTTGGAAGTGCTGGACAGCCATAGTTTTGAACGCTCTGACTTCAGCAACTCTCTTGACTCCCTTTGTAACCGAATCTTTGGATTGGGACCTAGCAAGGATGGGCATGAGGTAAGCGAAAAGGGGAATAGAAGGAGCAAAAAACATTGCAAGAGCAATAATATGTCTGAGAGGGAAGTCATGGTGAGGCATTGAAAGCAGAGCATATCTGCAGAAATGATCTTACTGGGCCCAGGATGTTTTATGATAGAGCCCAGTCTTTAGGAAATTGGAACTCATTTCTTTGTCCCCACCCCTACCTTACTCCTCCTTCTCTTCCTTTGTTCTCCAGATCTCCTCAGATGATGATGCTGTGGTGTCATTGCTATGTGAATGGGCTGTCAGCTGCAAGCATTCTGGTCGGCATCGTGCTATGGTGGTAGCCAAGCTCCTGGAGAAGAGACAGGCGGAGATTGAGGCTGAGGTTAGAGGGCAGAGATAAGAGAACAAGATTGGCCAATGGGAAGGAATTTACTGCGGTTGGAGACCGAGAGATGGAGGTGGTGGAGGGACCAGAGTTGAAGGTGTGAGAACAGAGTAAAGAAGCAAAAGAGAACCTAAAGGCAAAGTTACGGACGTGAGGCGAAAGTAGAGAAGAGTGGATTGTAGTAAGAGTTAGAGATAACATCAAGGCTTCAGTTGGGAGGTGGTAAAGAACATGGAGGTCAGCAGGGGAATGAAAGTGAAAAGCATGGGGTAGAGGTCAAGCAGGTGGTAGTTTAAGGCCTACACATTGAGGAGTGAAGAAGCAGGTAAAAGTCAGTTCTACAATTTGTTCTGTCATCTTGCAGCGTTGTGGAGAATCAGAAGCCGCAGATGAGAAGGGTTCCATCGCCTCTGGCTCCCTTTCTGCTCCCAGTGCTCCCATTTTCCAGGATGTCCTCCTGCAGTTTCTGGATACACAGGCTCCCATGCTGAGTACGGACCCCTACCACTCTCTAGTTACCTCTGCCTAGACTCAGTTACCCACCACTGTCATCAGAAAGCATAATTAACAGCCCTCTGGTCTATATTTCTCTCTTGGGCTCTATGCAGAATGACTTTTAGATGTAGTTCTAGTGATCCTCTTTAACTGGTCATCTTACAGTTAAACAGAGTAGAGAAATACAGAGAAGGATAAAAACAAGAGCTTGTGATTGAAGCATTTTCACTGCATAAATCGCAACAAAGATGTTACATTCCTTTCTGAGATGATGTGTGGGACAGCATGTGGGGTAACCAACCACACTTTGTCCCTCAACAATTTCTGGGATTTCTATTTGATCACTCTTATTATTGCCTTAGGTGTGTCCCTCTCTCTTTTGGCCCACCTTTTTGTGTTCTCCTAACTTATGTTTCCTCATTCCCTTCCTCCAGCGGACCCTCGAAGTGAGAGTGAGCGGGTGGAATTCTTTAACTTAGTACTGCTGTTCTGTGAACTGATTCGACATGATGTTTTCTCCCACAACATGTATACTTGCACTCTCATCTCCCGAGGGGACCTTGCCTTTGGAGCCCCTGGTCCCCGGCCTCCCTCTCCCTTTGATGATCCTGCCGATGACCCAGAGCACAAGGAGGCTGAAGGCAGCAGCAGCAGCAAGCTGGAAGTGAGTGGGCTTTTCCTTGCACTAGATCGTTTCTTCTGACATTTCCATCTTCATGGCTCCCAGGGGCCTCTAAGAGCCTCTTTTGCCTGGGGGAGGGGGGTAGTATTTTTCTTAGCACTTGGTGATTGACCAAGCACTCTCACATCAATTGTTTCATTGGTTCCTCCCATCAGCCTTGTGAGGTACTCTTATCCCCATTTTCAAACTGAAGAAAACAGAGGCCTATACTGGTTAAGTGATTGGATGAGGCTTGACTCCAGATCCTGTGCTTTCCCCAATCTGGTCTTCTCTCTCCACTTCCCCAATGAAGTTTTACAGATGGTGGGAGCCACTCCCTAGGGCTAAAGCAACTTCGCTTATGTTCTATGCCCTCAGGATCCAGGGCTCTCAGAATCTATGGACATTGACCCTAGTTCCAGTGTTCTCTTTGAGGACATGGAGAAGCCTGATTTCTCAGTAAGTTCAATCCTGAGCGTGGCAGAATCTGGATCCTTGGATCTTCCCATTATGCCTGCTTTTGGCATGTTTTTTTGCCCCCTCATCCACTTTCCTTCTTCTCATGTTCTGCTTTCTCACCTTTCTCTCAGTTGTTCTCCCCTACTATGCCCTGTGAGGGGAAGGGCAGTCCATCCCCTGAGAAGCCAGATGTCGAGAAGGAGGTGAAGCCCCCACCCAAGGAGAAGATTGAAGGGACCCTTGGGGTTCTTTACGACCAGCCACGACACGTGCAGTACGCCACCCATTTTCCCATCCCCCAGGTACTATTCCCCAGCACCTTGTGATGATCTGTTTTGAACCCAGATTGCTGTCAAAGG
Task1_train_30282
This alteration occurs within gene MED12 (mediator complex subunit 12) located on Chromosome X. Is it associated with a disease or is it a benign variant?
Pathogenic; X-linked intellectual disability with marfanoid habitus
CTTCCCTGTTTCCCTCTTCCTTCCTTCCCTCCCTCCCTCCTTCCATCTCTCCCTCCCTCCCTCCCATAGCCTTCTCTCCATACCCCACTCCCCACCCCTAGTCAACTAGTTATCTTCCCTGTCTTGACTGGTCCCTTTCAACTGTCCCCTCAGGTGGGGAGGATGGGCAGAAGCGGCGACGCAACCGGCCTGAAGCCTTCCCCACTGCTGAAGATATCTTTGCTAAGTTCCAGCACCTTTCACATTATGACCAACACCAGGTCACGGCTCAGGTGTGGGCCTAAGCCCAGCCCCTTTCCCACATTCTGGCCTCCTGTTCTGTTTTCCTTTTCTTCCCTATCTTCTCCCTGCTAGGCAGGCTAAGCCTCCTGGTCTCATCCCCTTCCAGTGTCATCCTTTCCTCCTTCCCTGGTTCTTTCCTCTCTCCACTCCCATCTCACTCCCACTGCCCTTATCAGGTCTCCCGGAATGTTCTGGAGCAGATCACGAGCTTTGCCCTTGGCATGTCATACCACTTGCCTCTGGTGCAGCATGTGCAGTTCATCTTCGACCTCATGGAATATTCACTCAGCATCAGTGGCCTCATCGACTTTGCCATTCAGGTGGGGAAGTTGGGGAGATGAGGGTGGAGGCAGGAGTTCATGCCATATAGCGGCTACGGAGGGTCATAAGGACAGGCGTAGAGGCTCCAGCCAGTTTCCCAAGCTATTTGAAGGGGCAGAAAGACTAGCATGGGGGGAGTGGAACATGAGCTAAGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCTATCCTGTGGTGGCTCCAGCAGGAAGGGGCTCAGGCCCAGCCTTGCCAGCGTCCCCACAGGAAGGTGGTTTCTATGTAACACAAGGGGCCTCTTTGCATTTCTCACCCCCGTTTACTCTGCTAGCTGCTGAATGAACTGAGTGTAGTTGAGGCTGAGCTGCTTCTCAAATCCTCGGATCTGGTGGGCAGCTACACTACTAGCCTGTGCCTGTGCATCGTGGCTGTCCTGCGGCACTATCATGCCTGCCTCATCCTCAACCAGGACCAGATGGCACAGGTCTTTGAGGGGTAAGCAGAGCTTCGGAATAACTGAAACAAAGCTCTGGCGAATGCCGGTGGAAGTGGCCTGGGAAGAGCATGCACTTCCTCACACTCTGGGGAAGCACCTGCTGCTCAGGTGGGAAAAGAATGGTATTTCCCAGAGGCTTGAATCTGTTTGGAGGAGCCCGCATACCATCTGCTGACCCTCCCAACCTTGCTTCTTCATGCAGGCTGTGTGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGAGCGCTGTATCCTTGCTTATCTCTATGATCTGTACACCTCCTGTAGCCATTTAAAGAACAAATTTGGGGAGCTCTTCAGGTAAGAGAGGTGGAAGGTAAGGGGTAGCGAGTGGGACCTACTCCCTTCTTCCCATGACCACCCAACTCAGGAGGAGAGGATGGCCCGGGACCCTGCTGCCTGTCTAGGGTCATTTGTGGACTGTGTCCTCCACATACTGTTGTGTTACCAAGAGTGGGCCCTCTTCCTCAGCAGGCTTGCTCCCCGCCTATATCTGTGGGGCCCACCCTCTTCCCCCTTTTCCTCACTGCCTTCAGAGGCCCCAGTTCCTTATTCCCATGTGGTTCCTTTCCTGCCCAGTCTGTTTTGTCCCATCTCCCTTTTCTTGTCTCAAGATCCTTCATCCCTCACTTTCTCCTTTTTTTCTTTTCTCCCCTTTCCTGACCATCCCTCGACCTCAGCAGGCCTTCTTCAACACTACTATCTCCTTTCCTCCATCCCTGCAGCGACTTTTGCTCAAAGGTGAAGAACACCATCTACTGCAACGTGGAGCCATCGGAATCAAATATGCGCTGGGCACCTGAGTTCATGATCGACACTCTAGAGAACCCTGCAGCTCACACCTTCACCTACACGGGGCTAGGCAAGAGTCTTAGTGAGAACCCTGCTAACCGCTACAGCTTTGTCTGCAATGCCCTTATGCACGTCTGTGTGGGGCACCATGATCCCGATAGGTATGGGGTGTACTGAGTGAGGAAGGGCACCATGCCCCCATCTGAGATAGGGAGGGCTGAGGTACCCGGGAGGTACTACAACCTTGATTATTTAGTGGGGCAGAGATGAGAAGTTAATGGGTCTGAGGTTTTGTGGAGCAAGGTTTTTCCTGAGGGCATTTGTACTTTTCCCTAGGGTGAATGACATCGCAATCCTGTGTGCAGAGCTGACCGGCTATTGCAAGTCACTGAGTGCAGAATGGCTAGGAGTGCTTAAGGCCTTGTGCTGCTCCTCTAACAATGGCACTTGTGGTTTCAACGATCTCCTCTGCAATGTTGATGTGAGACTTGGGGTGGGGTTTTGCTAGTGGGGCAGTGACCAGGGCAGGGGGCTGGTTGTGATCCTCTGACCAGGGACAGAGTTCCGTAGAGTGGAGGCACACCGCTTTGAGTGGGCCTCCACACTGAGTCATGGTGTCTGTCTGTTTTTTCCTCCAGGTCAGTGACCTATCTTTTCATGACTCGCTGGCTACTTTTGTTGCCATCCTCATCGCTCGGCAGTGTTTGCTCCTGGAAGATCTGATTCGCTGTGCTGCCATCCCTTCACTCCTTAATGCTGGTGAACTACCAATCTGTAACCCCTAGCATTTCTAGACCTCAAATTTCAATACACACTGGACGGCCATCCTCTCATTGTTCACTGTGGGAGACCTTGCTGCGGCTCCCTGGCCTTCCTCAGAAGGCCAGTCCTTTGGTATGCTGAAGGCTAGAAGAAACCTGTTTTTTAGCCCTGGATTTGCAGCCCTGACCTTTCCAATTTCTGACCCTTCAACTGCGTAACAGTTCTCTGCTCTACCTCGCTTTCAATATTATCTTGCTTTTTCTCCTTTCACTTTACCTCATCTTCTCTCCCATGCCCCTGCCATACACTTGCATGCATGCAGGCACGCACACACATAAACCCACATACAGTTTAACTTCATCCCTTCCAGATCTGTTTTGTCTTCCTTTTAGCTTGTAGTGAACAGGACTCTGAGCCAGGGGCCCGGCTTACCTGCCGCATCCTCCTTCACCTTTTCAAGACACCGCAGCTCAATCCTTGCCAGTCTGATGGAAGTAAGTGACCCTGATCTGAACCAGCCAACAGTAGAAAGTGTGGTTCCCCTGCCTCCGTGGATTCTACTTTTGCTTCCCCTGACTTCATCGCCTTCCCCAGACAAGCCTACAGTAGGAATCCGCTCCTCCTGCGACCGCCACCTGCTGGCTGCCTCCCAGAACCGCATCGTGGATGGAGCCGTGTTTGCTGTTCTCAAGGCTGTGTTTGTACTTGGTACGGGGGTAGGAAGGGAGTGGTGCCAGAAGTGTGTATAGGGTGGAGTGCCAGCTAAACTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCC
CTTCCCTGTTTCCCTCTTCCTTCCTTCCCTCCCTCCCTCCTTCCATCTCTCCCTCCCTCCCTCCCATAGCCTTCTCTCCATACCCCACTCCCCACCCCTAGTCAACTAGTTATCTTCCCTGTCTTGACTGGTCCCTTTCAACTGTCCCCTCAGGTGGGGAGGATGGGCAGAAGCGGCGACGCAACCGGCCTGAAGCCTTCCCCACTGCTGAAGATATCTTTGCTAAGTTCCAGCACCTTTCACATTATGACCAACACCAGGTCACGGCTCAGGTGTGGGCCTAAGCCCAGCCCCTTTCCCACATTCTGGCCTCCTGTTCTGTTTTCCTTTTCTTCCCTATCTTCTCCCTGCTAGGCAGGCTAAGCCTCCTGGTCTCATCCCCTTCCAGTGTCATCCTTTCCTCCTTCCCTGGTTCTTTCCTCTCTCCACTCCCATCTCACTCCCACTGCCCTTATCAGGTCTCCCGGAATGTTCTGGAGCAGATCACGAGCTTTGCCCTTGGCATGTCATACCACTTGCCTCTGGTGCAGCATGTGCAGTTCATCTTCGACCTCATGGAATATTCACTCAGCATCAGTGGCCTCATCGACTTTGCCATTCAGGTGGGGAAGTTGGGGAGATGAGGGTGGAGGCAGGAGTTCATGCCATATAGCGGCTACGGAGGGTCATAAGGACAGGCGTAGAGGCTCCAGCCAGTTTCCCAAGCTATTTGAAGGGGCAGAAAGACTAGCATGGGGGGAGTGGAACATGAGCTAAGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCTATCCTGTGGTGGCTCCAGCAGGAAGGGGCTCAGGCCCAGCCTTGCCAGCGTCCCCACAGGAAGGTGGTTTCTATGTAACACAAGGGGCCTCTTTGCATTTCTCACCCCCGTTTACTCTGCTAGCTGCTGAATGAACTGAGTGTAGTTGAGGCTGAGCTGCTTCTCAAATCCTCGGATCTGGTGGGCAGCTACACTACTAGCCTGTGCCTGTGCATCGTGGCTGTCCTGCGGCACTATCATGCCTGCCTCATCCTCAACCAGGACCAGATGGCACAGGTCTTTGAGGGGTAAGCAGAGCTTCGGAATAACTGAAACAAAGCTCTGGCGAATGCCGGTGGAAGTGGCCTGGGAAGAGCATGCACTTCCTCACACTCTGGGGAAGCACCTGCTGCTCAGGTGGGAAAAGAATGGTATTTCCCAGAGGCTTGAATCTGTTTGGAGGAGCCCGCATACCATCTGCTGACCCTCCCAACCTTGCTTCTTCATGCAGGCTGTGTGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGAGCGCTGTATCCTTGCTTATCTCTATGATCTGTACACCTCCTGTAGCCATTTAAAGAACAAATTTGGGGAGCTCTTCAGGTAAGAGAGGTGGAAGGTAAGGGGTAGCGAGTGGGACCTACTCCCTTCTTCCCATGACCACCCAACTCAGGAGGAGAGGATGGCCCGGGACCCTGCTGCCTGTCTAGGGTCATTTGTGGACTGTGTCCTCCACATACTGTTGTGTTACCAAGAGTGGGCCCTCTTCCTCAGCAGGCTTGCTCCCCGCCTATATCTGTGGGGCCCACCCTCTTCCCCCTTTTCCTCACTGCCTTCAGAGGCCCCAGTTCCTTATTCCCATGTGGTTCCTTTCCTGCCCAGTCTGTTTTGTCCCATCTCCCTTTTCTTGTCTCAAGATCCTTCATCCCTCACTTTCTCCTTTTTTTCTTTTCTCCCCTTTCCTGACCATCCCTCGACCTCAGCAGGCCTTCTTCAACACTACTATCTCCTTTCCTCCATCCCTGCAGCGACTTTTGCTCAAAGGTGAAGAACACCATCTACTGCAGCGTGGAGCCATCGGAATCAAATATGCGCTGGGCACCTGAGTTCATGATCGACACTCTAGAGAACCCTGCAGCTCACACCTTCACCTACACGGGGCTAGGCAAGAGTCTTAGTGAGAACCCTGCTAACCGCTACAGCTTTGTCTGCAATGCCCTTATGCACGTCTGTGTGGGGCACCATGATCCCGATAGGTATGGGGTGTACTGAGTGAGGAAGGGCACCATGCCCCCATCTGAGATAGGGAGGGCTGAGGTACCCGGGAGGTACTACAACCTTGATTATTTAGTGGGGCAGAGATGAGAAGTTAATGGGTCTGAGGTTTTGTGGAGCAAGGTTTTTCCTGAGGGCATTTGTACTTTTCCCTAGGGTGAATGACATCGCAATCCTGTGTGCAGAGCTGACCGGCTATTGCAAGTCACTGAGTGCAGAATGGCTAGGAGTGCTTAAGGCCTTGTGCTGCTCCTCTAACAATGGCACTTGTGGTTTCAACGATCTCCTCTGCAATGTTGATGTGAGACTTGGGGTGGGGTTTTGCTAGTGGGGCAGTGACCAGGGCAGGGGGCTGGTTGTGATCCTCTGACCAGGGACAGAGTTCCGTAGAGTGGAGGCACACCGCTTTGAGTGGGCCTCCACACTGAGTCATGGTGTCTGTCTGTTTTTTCCTCCAGGTCAGTGACCTATCTTTTCATGACTCGCTGGCTACTTTTGTTGCCATCCTCATCGCTCGGCAGTGTTTGCTCCTGGAAGATCTGATTCGCTGTGCTGCCATCCCTTCACTCCTTAATGCTGGTGAACTACCAATCTGTAACCCCTAGCATTTCTAGACCTCAAATTTCAATACACACTGGACGGCCATCCTCTCATTGTTCACTGTGGGAGACCTTGCTGCGGCTCCCTGGCCTTCCTCAGAAGGCCAGTCCTTTGGTATGCTGAAGGCTAGAAGAAACCTGTTTTTTAGCCCTGGATTTGCAGCCCTGACCTTTCCAATTTCTGACCCTTCAACTGCGTAACAGTTCTCTGCTCTACCTCGCTTTCAATATTATCTTGCTTTTTCTCCTTTCACTTTACCTCATCTTCTCTCCCATGCCCCTGCCATACACTTGCATGCATGCAGGCACGCACACACATAAACCCACATACAGTTTAACTTCATCCCTTCCAGATCTGTTTTGTCTTCCTTTTAGCTTGTAGTGAACAGGACTCTGAGCCAGGGGCCCGGCTTACCTGCCGCATCCTCCTTCACCTTTTCAAGACACCGCAGCTCAATCCTTGCCAGTCTGATGGAAGTAAGTGACCCTGATCTGAACCAGCCAACAGTAGAAAGTGTGGTTCCCCTGCCTCCGTGGATTCTACTTTTGCTTCCCCTGACTTCATCGCCTTCCCCAGACAAGCCTACAGTAGGAATCCGCTCCTCCTGCGACCGCCACCTGCTGGCTGCCTCCCAGAACCGCATCGTGGATGGAGCCGTGTTTGCTGTTCTCAAGGCTGTGTTTGTACTTGGTACGGGGGTAGGAAGGGAGTGGTGCCAGAAGTGTGTATAGGGTGGAGTGCCAGCTAAACTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCC
Task1_train_30283
Gene MED12 (mediator complex subunit 12) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; FG syndrome
CTTCCCTGTTTCCCTCTTCCTTCCTTCCCTCCCTCCCTCCTTCCATCTCTCCCTCCCTCCCTCCCATAGCCTTCTCTCCATACCCCACTCCCCACCCCTAGTCAACTAGTTATCTTCCCTGTCTTGACTGGTCCCTTTCAACTGTCCCCTCAGGTGGGGAGGATGGGCAGAAGCGGCGACGCAACCGGCCTGAAGCCTTCCCCACTGCTGAAGATATCTTTGCTAAGTTCCAGCACCTTTCACATTATGACCAACACCAGGTCACGGCTCAGGTGTGGGCCTAAGCCCAGCCCCTTTCCCACATTCTGGCCTCCTGTTCTGTTTTCCTTTTCTTCCCTATCTTCTCCCTGCTAGGCAGGCTAAGCCTCCTGGTCTCATCCCCTTCCAGTGTCATCCTTTCCTCCTTCCCTGGTTCTTTCCTCTCTCCACTCCCATCTCACTCCCACTGCCCTTATCAGGTCTCCCGGAATGTTCTGGAGCAGATCACGAGCTTTGCCCTTGGCATGTCATACCACTTGCCTCTGGTGCAGCATGTGCAGTTCATCTTCGACCTCATGGAATATTCACTCAGCATCAGTGGCCTCATCGACTTTGCCATTCAGGTGGGGAAGTTGGGGAGATGAGGGTGGAGGCAGGAGTTCATGCCATATAGCGGCTACGGAGGGTCATAAGGACAGGCGTAGAGGCTCCAGCCAGTTTCCCAAGCTATTTGAAGGGGCAGAAAGACTAGCATGGGGGGAGTGGAACATGAGCTAAGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCTATCCTGTGGTGGCTCCAGCAGGAAGGGGCTCAGGCCCAGCCTTGCCAGCGTCCCCACAGGAAGGTGGTTTCTATGTAACACAAGGGGCCTCTTTGCATTTCTCACCCCCGTTTACTCTGCTAGCTGCTGAATGAACTGAGTGTAGTTGAGGCTGAGCTGCTTCTCAAATCCTCGGATCTGGTGGGCAGCTACACTACTAGCCTGTGCCTGTGCATCGTGGCTGTCCTGCGGCACTATCATGCCTGCCTCATCCTCAACCAGGACCAGATGGCACAGGTCTTTGAGGGGTAAGCAGAGCTTCGGAATAACTGAAACAAAGCTCTGGCGAATGCCGGTGGAAGTGGCCTGGGAAGAGCATGCACTTCCTCACACTCTGGGGAAGCACCTGCTGCTCAGGTGGGAAAAGAATGGTATTTCCCAGAGGCTTGAATCTGTTTGGAGGAGCCCGCATACCATCTGCTGACCCTCCCAACCTTGCTTCTTCATGCAGGCTGTGTGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGAGCGCTGTATCCTTGCTTATCTCTATGATCTGTACACCTCCTGTAGCCATTTAAAGAACAAATTTGGGGAGCTCTTCAGGTAAGAGAGGTGGAAGGTAAGGGGTAGCGAGTGGGACCTACTCCCTTCTTCCCATGACCACCCAACTCAGGAGGAGAGGATGGCCCGGGACCCTGCTGCCTGTCTAGGGTCATTTGTGGACTGTGTCCTCCACATACTGTTGTGTTACCAAGAGTGGGCCCTCTTCCTCAGCAGGCTTGCTCCCCGCCTATATCTGTGGGGCCCACCCTCTTCCCCCTTTTCCTCACTGCCTTCAGAGGCCCCAGTTCCTTATTCCCATGTGGTTCCTTTCCTGCCCAGTCTGTTTTGTCCCATCTCCCTTTTCTTGTCTCAAGATCCTTCATCCCTCACTTTCTCCTTTTTTTCTTTTCTCCCCTTTCCTGACCATCCCTCGACCTCAGCAGGCCTTCTTCAACACTACTATCTCCTTTCCTCCATCCCTGCAGCGACTTTTGCTCAAAGGTGAAGAACACCATCTACTGCAACGTGGAGCCATCGGAATCAAATATGCGCTGGGCACCTGAGTTCATGATCGACACTCTAGAGAACCCTGCAGCTCACACCTTCACCTACACGGGGCTAGGCAAGAGTCTTAGTGAGAACCCTGCTAACCGCTACAGCTTTGTCTGCAATGCCCTTATGCACGTCTGTGTGGGGCACCATGATCCCGATAGGTATGGGGTGTACTGAGTGAGGAAGGGCACCATGCCCCCATCTGAGATAGGGAGGGCTGAGGTACCCGGGAGGTACTACAACCTTGATTATTTAGTGGGGCAGAGATGAGAAGTTAATGGGTCTGAGGTTTTGTGGAGCAAGGTTTTTCCTGAGGGCATTTGTACTTTTCCCTAGGGTGAATGACATCGCAATCCTGTGTGCAGAGCTGACCGGCTATTGCAAGTCACTGAGTGCAGAATGGCTAGGAGTGCTTAAGGCCTTGTGCTGCTCCTCTAACAATGGCACTTGTGGTTTCAACGATCTCCTCTGCAATGTTGATGTGAGACTTGGGGTGGGGTTTTGCTAGTGGGGCAGTGACCAGGGCAGGGGGCTGGTTGTGATCCTCTGACCAGGGACAGAGTTCCGTAGAGTGGAGGCACACCGCTTTGAGTGGGCCTCCACACTGAGTCATGGTGTCTGTCTGTTTTTTCCTCCAGGTCAGTGACCTATCTTTTCATGACTCGCTGGCTACTTTTGTTGCCATCCTCATCGCTCGGCAGTGTTTGCTCCTGGAAGATCTGATTCGCTGTGCTGCCATCCCTTCACTCCTTAATGCTGGTGAACTACCAATCTGTAACCCCTAGCATTTCTAGACCTCAAATTTCAATACACACTGGACGGCCATCCTCTCATTGTTCACTGTGGGAGACCTTGCTGCGGCTCCCTGGCCTTCCTCAGAAGGCCAGTCCTTTGGTATGCTGAAGGCTAGAAGAAACCTGTTTTTTAGCCCTGGATTTGCAGCCCTGACCTTTCCAATTTCTGACCCTTCAACTGCGTAACAGTTCTCTGCTCTACCTCGCTTTCAATATTATCTTGCTTTTTCTCCTTTCACTTTACCTCATCTTCTCTCCCATGCCCCTGCCATACACTTGCATGCATGCAGGCACGCACACACATAAACCCACATACAGTTTAACTTCATCCCTTCCAGATCTGTTTTGTCTTCCTTTTAGCTTGTAGTGAACAGGACTCTGAGCCAGGGGCCCGGCTTACCTGCCGCATCCTCCTTCACCTTTTCAAGACACCGCAGCTCAATCCTTGCCAGTCTGATGGAAGTAAGTGACCCTGATCTGAACCAGCCAACAGTAGAAAGTGTGGTTCCCCTGCCTCCGTGGATTCTACTTTTGCTTCCCCTGACTTCATCGCCTTCCCCAGACAAGCCTACAGTAGGAATCCGCTCCTCCTGCGACCGCCACCTGCTGGCTGCCTCCCAGAACCGCATCGTGGATGGAGCCGTGTTTGCTGTTCTCAAGGCTGTGTTTGTACTTGGTACGGGGGTAGGAAGGGAGTGGTGCCAGAAGTGTGTATAGGGTGGAGTGCCAGCTAAACTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCC
CTTCCCTGTTTCCCTCTTCCTTCCTTCCCTCCCTCCCTCCTTCCATCTCTCCCTCCCTCCCTCCCATAGCCTTCTCTCCATACCCCACTCCCCACCCCTAGTCAACTAGTTATCTTCCCTGTCTTGACTGGTCCCTTTCAACTGTCCCCTCAGGTGGGGAGGATGGGCAGAAGCGGCGACGCAACCGGCCTGAAGCCTTCCCCACTGCTGAAGATATCTTTGCTAAGTTCCAGCACCTTTCACATTATGACCAACACCAGGTCACGGCTCAGGTGTGGGCCTAAGCCCAGCCCCTTTCCCACATTCTGGCCTCCTGTTCTGTTTTCCTTTTCTTCCCTATCTTCTCCCTGCTAGGCAGGCTAAGCCTCCTGGTCTCATCCCCTTCCAGTGTCATCCTTTCCTCCTTCCCTGGTTCTTTCCTCTCTCCACTCCCATCTCACTCCCACTGCCCTTATCAGGTCTCCCGGAATGTTCTGGAGCAGATCACGAGCTTTGCCCTTGGCATGTCATACCACTTGCCTCTGGTGCAGCATGTGCAGTTCATCTTCGACCTCATGGAATATTCACTCAGCATCAGTGGCCTCATCGACTTTGCCATTCAGGTGGGGAAGTTGGGGAGATGAGGGTGGAGGCAGGAGTTCATGCCATATAGCGGCTACGGAGGGTCATAAGGACAGGCGTAGAGGCTCCAGCCAGTTTCCCAAGCTATTTGAAGGGGCAGAAAGACTAGCATGGGGGGAGTGGAACATGAGCTAAGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCTATCCTGTGGTGGCTCCAGCAGGAAGGGGCTCAGGCCCAGCCTTGCCAGCGTCCCCACAGGAAGGTGGTTTCTATGTAACACAAGGGGCCTCTTTGCATTTCTCACCCCCGTTTACTCTGCTAGCTGCTGAATGAACTGAGTGTAGTTGAGGCTGAGCTGCTTCTCAAATCCTCGGATCTGGTGGGCAGCTACACTACTAGCCTGTGCCTGTGCATCGTGGCTGTCCTGCGGCACTATCATGCCTGCCTCATCCTCAACCAGGACCAGATGGCACAGGTCTTTGAGGGGTAAGCAGAGCTTCGGAATAACTGAAACAAAGCTCTGGCGAATGCCGGTGGAAGTGGCCTGGGAAGAGCATGCACTTCCTCACACTCTGGGGAAGCACCTGCTGCTCAGGTGGGAAAAGAATGGTATTTCCCAGAGGCTTGAATCTGTTTGGAGGAGCCCGCATACCATCTGCTGACCCTCCCAACCTTGCTTCTTCATGCAGGCTGTGTGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGAGCGCTGTATCCTTGCTTATCTCTATGATCTGTACACCTCCTGTAGCCATTTAAAGAACAAATTTGGGGAGCTCTTCAGGTAAGAGAGGTGGAAGGTAAGGGGTAGCGAGTGGGACCTACTCCCTTCTTCCCATGACCACCCAACTCAGGAGGAGAGGATGGCCCGGGACCCTGCTGCCTGTCTAGGGTCATTTGTGGACTGTGTCCTCCACATACTGTTGTGTTACCAAGAGTGGGCCCTCTTCCTCAGCAGGCTTGCTCCCCGCCTATATCTGTGGGGCCCACCCTCTTCCCCCTTTTCCTCACTGCCTTCAGAGGCCCCAGTTCCTTATTCCCATGTGGTTCCTTTCCTGCCCAGTCTGTTTTGTCCCATCTCCCTTTTCTTGTCTCAAGATCCTTCATCCCTCACTTTCTCCTTTTTTTCTTTTCTCCCCTTTCCTGACCATCCCTCGACCTCAGCAGGCCTTCTTCAACACTACTATCTCCTTTCCTCCATCCCTGCAGCGACTTTTGCTCAAAGGTGAAGAACACCATCTACTGCAGCGTGGAGCCATCGGAATCAAATATGCGCTGGGCACCTGAGTTCATGATCGACACTCTAGAGAACCCTGCAGCTCACACCTTCACCTACACGGGGCTAGGCAAGAGTCTTAGTGAGAACCCTGCTAACCGCTACAGCTTTGTCTGCAATGCCCTTATGCACGTCTGTGTGGGGCACCATGATCCCGATAGGTATGGGGTGTACTGAGTGAGGAAGGGCACCATGCCCCCATCTGAGATAGGGAGGGCTGAGGTACCCGGGAGGTACTACAACCTTGATTATTTAGTGGGGCAGAGATGAGAAGTTAATGGGTCTGAGGTTTTGTGGAGCAAGGTTTTTCCTGAGGGCATTTGTACTTTTCCCTAGGGTGAATGACATCGCAATCCTGTGTGCAGAGCTGACCGGCTATTGCAAGTCACTGAGTGCAGAATGGCTAGGAGTGCTTAAGGCCTTGTGCTGCTCCTCTAACAATGGCACTTGTGGTTTCAACGATCTCCTCTGCAATGTTGATGTGAGACTTGGGGTGGGGTTTTGCTAGTGGGGCAGTGACCAGGGCAGGGGGCTGGTTGTGATCCTCTGACCAGGGACAGAGTTCCGTAGAGTGGAGGCACACCGCTTTGAGTGGGCCTCCACACTGAGTCATGGTGTCTGTCTGTTTTTTCCTCCAGGTCAGTGACCTATCTTTTCATGACTCGCTGGCTACTTTTGTTGCCATCCTCATCGCTCGGCAGTGTTTGCTCCTGGAAGATCTGATTCGCTGTGCTGCCATCCCTTCACTCCTTAATGCTGGTGAACTACCAATCTGTAACCCCTAGCATTTCTAGACCTCAAATTTCAATACACACTGGACGGCCATCCTCTCATTGTTCACTGTGGGAGACCTTGCTGCGGCTCCCTGGCCTTCCTCAGAAGGCCAGTCCTTTGGTATGCTGAAGGCTAGAAGAAACCTGTTTTTTAGCCCTGGATTTGCAGCCCTGACCTTTCCAATTTCTGACCCTTCAACTGCGTAACAGTTCTCTGCTCTACCTCGCTTTCAATATTATCTTGCTTTTTCTCCTTTCACTTTACCTCATCTTCTCTCCCATGCCCCTGCCATACACTTGCATGCATGCAGGCACGCACACACATAAACCCACATACAGTTTAACTTCATCCCTTCCAGATCTGTTTTGTCTTCCTTTTAGCTTGTAGTGAACAGGACTCTGAGCCAGGGGCCCGGCTTACCTGCCGCATCCTCCTTCACCTTTTCAAGACACCGCAGCTCAATCCTTGCCAGTCTGATGGAAGTAAGTGACCCTGATCTGAACCAGCCAACAGTAGAAAGTGTGGTTCCCCTGCCTCCGTGGATTCTACTTTTGCTTCCCCTGACTTCATCGCCTTCCCCAGACAAGCCTACAGTAGGAATCCGCTCCTCCTGCGACCGCCACCTGCTGGCTGCCTCCCAGAACCGCATCGTGGATGGAGCCGTGTTTGCTGTTCTCAAGGCTGTGTTTGTACTTGGTACGGGGGTAGGAAGGGAGTGGTGCCAGAAGTGTGTATAGGGTGGAGTGCCAGCTAAACTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCC
Task1_train_30284
The gene MED12 (mediator complex subunit 12) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; FG syndrome 1
AGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCTATCCTGTGGTGGCTCCAGCAGGAAGGGGCTCAGGCCCAGCCTTGCCAGCGTCCCCACAGGAAGGTGGTTTCTATGTAACACAAGGGGCCTCTTTGCATTTCTCACCCCCGTTTACTCTGCTAGCTGCTGAATGAACTGAGTGTAGTTGAGGCTGAGCTGCTTCTCAAATCCTCGGATCTGGTGGGCAGCTACACTACTAGCCTGTGCCTGTGCATCGTGGCTGTCCTGCGGCACTATCATGCCTGCCTCATCCTCAACCAGGACCAGATGGCACAGGTCTTTGAGGGGTAAGCAGAGCTTCGGAATAACTGAAACAAAGCTCTGGCGAATGCCGGTGGAAGTGGCCTGGGAAGAGCATGCACTTCCTCACACTCTGGGGAAGCACCTGCTGCTCAGGTGGGAAAAGAATGGTATTTCCCAGAGGCTTGAATCTGTTTGGAGGAGCCCGCATACCATCTGCTGACCCTCCCAACCTTGCTTCTTCATGCAGGCTGTGTGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGAGCGCTGTATCCTTGCTTATCTCTATGATCTGTACACCTCCTGTAGCCATTTAAAGAACAAATTTGGGGAGCTCTTCAGGTAAGAGAGGTGGAAGGTAAGGGGTAGCGAGTGGGACCTACTCCCTTCTTCCCATGACCACCCAACTCAGGAGGAGAGGATGGCCCGGGACCCTGCTGCCTGTCTAGGGTCATTTGTGGACTGTGTCCTCCACATACTGTTGTGTTACCAAGAGTGGGCCCTCTTCCTCAGCAGGCTTGCTCCCCGCCTATATCTGTGGGGCCCACCCTCTTCCCCCTTTTCCTCACTGCCTTCAGAGGCCCCAGTTCCTTATTCCCATGTGGTTCCTTTCCTGCCCAGTCTGTTTTGTCCCATCTCCCTTTTCTTGTCTCAAGATCCTTCATCCCTCACTTTCTCCTTTTTTTCTTTTCTCCCCTTTCCTGACCATCCCTCGACCTCAGCAGGCCTTCTTCAACACTACTATCTCCTTTCCTCCATCCCTGCAGCGACTTTTGCTCAAAGGTGAAGAACACCATCTACTGCAACGTGGAGCCATCGGAATCAAATATGCGCTGGGCACCTGAGTTCATGATCGACACTCTAGAGAACCCTGCAGCTCACACCTTCACCTACACGGGGCTAGGCAAGAGTCTTAGTGAGAACCCTGCTAACCGCTACAGCTTTGTCTGCAATGCCCTTATGCACGTCTGTGTGGGGCACCATGATCCCGATAGGTATGGGGTGTACTGAGTGAGGAAGGGCACCATGCCCCCATCTGAGATAGGGAGGGCTGAGGTACCCGGGAGGTACTACAACCTTGATTATTTAGTGGGGCAGAGATGAGAAGTTAATGGGTCTGAGGTTTTGTGGAGCAAGGTTTTTCCTGAGGGCATTTGTACTTTTCCCTAGGGTGAATGACATCGCAATCCTGTGTGCAGAGCTGACCGGCTATTGCAAGTCACTGAGTGCAGAATGGCTAGGAGTGCTTAAGGCCTTGTGCTGCTCCTCTAACAATGGCACTTGTGGTTTCAACGATCTCCTCTGCAATGTTGATGTGAGACTTGGGGTGGGGTTTTGCTAGTGGGGCAGTGACCAGGGCAGGGGGCTGGTTGTGATCCTCTGACCAGGGACAGAGTTCCGTAGAGTGGAGGCACACCGCTTTGAGTGGGCCTCCACACTGAGTCATGGTGTCTGTCTGTTTTTTCCTCCAGGTCAGTGACCTATCTTTTCATGACTCGCTGGCTACTTTTGTTGCCATCCTCATCGCTCGGCAGTGTTTGCTCCTGGAAGATCTGATTCGCTGTGCTGCCATCCCTTCACTCCTTAATGCTGGTGAACTACCAATCTGTAACCCCTAGCATTTCTAGACCTCAAATTTCAATACACACTGGACGGCCATCCTCTCATTGTTCACTGTGGGAGACCTTGCTGCGGCTCCCTGGCCTTCCTCAGAAGGCCAGTCCTTTGGTATGCTGAAGGCTAGAAGAAACCTGTTTTTTAGCCCTGGATTTGCAGCCCTGACCTTTCCAATTTCTGACCCTTCAACTGCGTAACAGTTCTCTGCTCTACCTCGCTTTCAATATTATCTTGCTTTTTCTCCTTTCACTTTACCTCATCTTCTCTCCCATGCCCCTGCCATACACTTGCATGCATGCAGGCACGCACACACATAAACCCACATACAGTTTAACTTCATCCCTTCCAGATCTGTTTTGTCTTCCTTTTAGCTTGTAGTGAACAGGACTCTGAGCCAGGGGCCCGGCTTACCTGCCGCATCCTCCTTCACCTTTTCAAGACACCGCAGCTCAATCCTTGCCAGTCTGATGGAAGTAAGTGACCCTGATCTGAACCAGCCAACAGTAGAAAGTGTGGTTCCCCTGCCTCCGTGGATTCTACTTTTGCTTCCCCTGACTTCATCGCCTTCCCCAGACAAGCCTACAGTAGGAATCCGCTCCTCCTGCGACCGCCACCTGCTGGCTGCCTCCCAGAACCGCATCGTGGATGGAGCCGTGTTTGCTGTTCTCAAGGCTGTGTTTGTACTTGGTACGGGGGTAGGAAGGGAGTGGTGCCAGAAGTGTGTATAGGGTGGAGTGCCAGCTAAACTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCCCATATTCCTAACCCCCTCACTGGTTGTTCCCAGTCCCTGATTGTCAGCTTCCTCAGGAATGGGTAGGAGAACGTTGCCTTAAGTCTCTGTGTGAGGACAGCAATGACCTGCAAGACCCAGTGTTGAGTAGTGCCCAGGCGCAGCGCCTCATGCAGCTCATTTGCTATCCACATCGACTGCTGGACAATGAGGATGGGGAAAACCCCCAGCGGCAGCGCATAAAGCGCATTCTCCAGGTAGGCCAAGGCCGTGGGGGCTGTGGAGGAAGCAGTGGGCCCAATCTGGGGAGAAACAATAGGAACCTTGAGAAAAGGAGAGGGGCAGTTAAGTAGAGAGGAAGACAAACAAGGATATAGGGGAGGGGAGAGGTAGCGAGAGAAACAGCTCCAGCATGGGCTGAGGAGTAAGTCCAGTAGGGTCTAGACTCCAGTGTAAGAGTATTAGGTGAGGGCATAGCTATCTGGAGTGAATCTAGCTTATCAATGGGAAGCATAGCATCTGGGAGGCCTAGGTGTGGGCCGTGTATATTTGGCATTTTGGCCATGGCTCAGGAACTGAATAGTAATAGCTACTACTTGCTGAGCATGTGCTTTGTGCCAGGTACTGTGCTAGGCACTCTGCACACATTTCCTCATTTAATCTTTATGACCCTATGAAGTAGGTGAGCCTCCCTGTTTGACCGATGAGGAAACTGAGGCTTGAAGAGGTTAAGTAACTTGTCTAACGTCACATAGCCCATAAGTTTAGAGTCAATA
AGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCTATCCTGTGGTGGCTCCAGCAGGAAGGGGCTCAGGCCCAGCCTTGCCAGCGTCCCCACAGGAAGGTGGTTTCTATGTAACACAAGGGGCCTCTTTGCATTTCTCACCCCCGTTTACTCTGCTAGCTGCTGAATGAACTGAGTGTAGTTGAGGCTGAGCTGCTTCTCAAATCCTCGGATCTGGTGGGCAGCTACACTACTAGCCTGTGCCTGTGCATCGTGGCTGTCCTGCGGCACTATCATGCCTGCCTCATCCTCAACCAGGACCAGATGGCACAGGTCTTTGAGGGGTAAGCAGAGCTTCGGAATAACTGAAACAAAGCTCTGGCGAATGCCGGTGGAAGTGGCCTGGGAAGAGCATGCACTTCCTCACACTCTGGGGAAGCACCTGCTGCTCAGGTGGGAAAAGAATGGTATTTCCCAGAGGCTTGAATCTGTTTGGAGGAGCCCGCATACCATCTGCTGACCCTCCCAACCTTGCTTCTTCATGCAGGCTGTGTGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGAGCGCTGTATCCTTGCTTATCTCTATGATCTGTACACCTCCTGTAGCCATTTAAAGAACAAATTTGGGGAGCTCTTCAGGTAAGAGAGGTGGAAGGTAAGGGGTAGCGAGTGGGACCTACTCCCTTCTTCCCATGACCACCCAACTCAGGAGGAGAGGATGGCCCGGGACCCTGCTGCCTGTCTAGGGTCATTTGTGGACTGTGTCCTCCACATACTGTTGTGTTACCAAGAGTGGGCCCTCTTCCTCAGCAGGCTTGCTCCCCGCCTATATCTGTGGGGCCCACCCTCTTCCCCCTTTTCCTCACTGCCTTCAGAGGCCCCAGTTCCTTATTCCCATGTGGTTCCTTTCCTGCCCAGTCTGTTTTGTCCCATCTCCCTTTTCTTGTCTCAAGATCCTTCATCCCTCACTTTCTCCTTTTTTTCTTTTCTCCCCTTTCCTGACCATCCCTCGACCTCAGCAGGCCTTCTTCAACACTACTATCTCCTTTCCTCCATCCCTGCAGCGACTTTTGCTCAAAGGTGAAGAACACCATCTACTGCAACGTGGAGCCATCGGAATCAAATATGCGCTGGGCACCTGAGTTCATGATCGACACTCTAGAGAACCCTGCAGCTCACACCTTCACCTACACGGGGCTAGGCAAGAGTCTTAGTGAGAACCCTGCTAACCGCTACAGCTTTGTCTGCAATGCCCTTATGCACGTCTGTGTGGGGCACCATGATCCCGATAGGTATGGGGTGTACTGAGTGAGGAAGGGCACCATGCCCCCATCTGAGATAGGGAGGGCTGAGGTACCCGGGAGGTACTACAACCTTGATTATTTAGTGGGGCAGAGATGAGAAGTTAATGGGTCTGAGGTTTTGTGGAGCAAGGTTTTTCCTGAGGGCATTTGTACTTTTCCCTAGGGTGAATGACATCGCAATCCTGTGTGCAGAGCTGACCGGCTATTGCAAGTCACTGAGTGCAGAATGGCTAGGAGTGCTTAAGGCCTTGTGCTGCTCCTCTAACAATGGCACTTGTGGTTTCAACGATCTCCTCTGCAATGTTGATGTGAGACTTGGGGTGGGGTTTTGCTAGTGGGGCAGTGACCAGGGCAGGGGGCTGGTTGTGATCCTCTGACCAGGGACAGAGTTCCGTAGAGTGGAGGCACACCGCTTTGAGTGGGCCTCCACACTGAGTCATGGTGTCTGTCTGTTTTTTCCTCCAGGTCAGTGACCTATCTTTTCATGACTCGCTGGCTACTTTTGTTGCCATCCTCATCGCTCGGCAGTGTTTGCTCCTGGAAGATCTGATTCACTGTGCTGCCATCCCTTCACTCCTTAATGCTGGTGAACTACCAATCTGTAACCCCTAGCATTTCTAGACCTCAAATTTCAATACACACTGGACGGCCATCCTCTCATTGTTCACTGTGGGAGACCTTGCTGCGGCTCCCTGGCCTTCCTCAGAAGGCCAGTCCTTTGGTATGCTGAAGGCTAGAAGAAACCTGTTTTTTAGCCCTGGATTTGCAGCCCTGACCTTTCCAATTTCTGACCCTTCAACTGCGTAACAGTTCTCTGCTCTACCTCGCTTTCAATATTATCTTGCTTTTTCTCCTTTCACTTTACCTCATCTTCTCTCCCATGCCCCTGCCATACACTTGCATGCATGCAGGCACGCACACACATAAACCCACATACAGTTTAACTTCATCCCTTCCAGATCTGTTTTGTCTTCCTTTTAGCTTGTAGTGAACAGGACTCTGAGCCAGGGGCCCGGCTTACCTGCCGCATCCTCCTTCACCTTTTCAAGACACCGCAGCTCAATCCTTGCCAGTCTGATGGAAGTAAGTGACCCTGATCTGAACCAGCCAACAGTAGAAAGTGTGGTTCCCCTGCCTCCGTGGATTCTACTTTTGCTTCCCCTGACTTCATCGCCTTCCCCAGACAAGCCTACAGTAGGAATCCGCTCCTCCTGCGACCGCCACCTGCTGGCTGCCTCCCAGAACCGCATCGTGGATGGAGCCGTGTTTGCTGTTCTCAAGGCTGTGTTTGTACTTGGTACGGGGGTAGGAAGGGAGTGGTGCCAGAAGTGTGTATAGGGTGGAGTGCCAGCTAAACTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCCCATATTCCTAACCCCCTCACTGGTTGTTCCCAGTCCCTGATTGTCAGCTTCCTCAGGAATGGGTAGGAGAACGTTGCCTTAAGTCTCTGTGTGAGGACAGCAATGACCTGCAAGACCCAGTGTTGAGTAGTGCCCAGGCGCAGCGCCTCATGCAGCTCATTTGCTATCCACATCGACTGCTGGACAATGAGGATGGGGAAAACCCCCAGCGGCAGCGCATAAAGCGCATTCTCCAGGTAGGCCAAGGCCGTGGGGGCTGTGGAGGAAGCAGTGGGCCCAATCTGGGGAGAAACAATAGGAACCTTGAGAAAAGGAGAGGGGCAGTTAAGTAGAGAGGAAGACAAACAAGGATATAGGGGAGGGGAGAGGTAGCGAGAGAAACAGCTCCAGCATGGGCTGAGGAGTAAGTCCAGTAGGGTCTAGACTCCAGTGTAAGAGTATTAGGTGAGGGCATAGCTATCTGGAGTGAATCTAGCTTATCAATGGGAAGCATAGCATCTGGGAGGCCTAGGTGTGGGCCGTGTATATTTGGCATTTTGGCCATGGCTCAGGAACTGAATAGTAATAGCTACTACTTGCTGAGCATGTGCTTTGTGCCAGGTACTGTGCTAGGCACTCTGCACACATTTCCTCATTTAATCTTTATGACCCTATGAAGTAGGTGAGCCTCCCTGTTTGACCGATGAGGAAACTGAGGCTTGAAGAGGTTAAGTAACTTGTCTAACGTCACATAGCCCATAAGTTTAGAGTCAATA
Task1_train_30285
The following genetic variant occurs in MED12 (mediator complex subunit 12) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; FG syndrome
AGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCTATCCTGTGGTGGCTCCAGCAGGAAGGGGCTCAGGCCCAGCCTTGCCAGCGTCCCCACAGGAAGGTGGTTTCTATGTAACACAAGGGGCCTCTTTGCATTTCTCACCCCCGTTTACTCTGCTAGCTGCTGAATGAACTGAGTGTAGTTGAGGCTGAGCTGCTTCTCAAATCCTCGGATCTGGTGGGCAGCTACACTACTAGCCTGTGCCTGTGCATCGTGGCTGTCCTGCGGCACTATCATGCCTGCCTCATCCTCAACCAGGACCAGATGGCACAGGTCTTTGAGGGGTAAGCAGAGCTTCGGAATAACTGAAACAAAGCTCTGGCGAATGCCGGTGGAAGTGGCCTGGGAAGAGCATGCACTTCCTCACACTCTGGGGAAGCACCTGCTGCTCAGGTGGGAAAAGAATGGTATTTCCCAGAGGCTTGAATCTGTTTGGAGGAGCCCGCATACCATCTGCTGACCCTCCCAACCTTGCTTCTTCATGCAGGCTGTGTGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGAGCGCTGTATCCTTGCTTATCTCTATGATCTGTACACCTCCTGTAGCCATTTAAAGAACAAATTTGGGGAGCTCTTCAGGTAAGAGAGGTGGAAGGTAAGGGGTAGCGAGTGGGACCTACTCCCTTCTTCCCATGACCACCCAACTCAGGAGGAGAGGATGGCCCGGGACCCTGCTGCCTGTCTAGGGTCATTTGTGGACTGTGTCCTCCACATACTGTTGTGTTACCAAGAGTGGGCCCTCTTCCTCAGCAGGCTTGCTCCCCGCCTATATCTGTGGGGCCCACCCTCTTCCCCCTTTTCCTCACTGCCTTCAGAGGCCCCAGTTCCTTATTCCCATGTGGTTCCTTTCCTGCCCAGTCTGTTTTGTCCCATCTCCCTTTTCTTGTCTCAAGATCCTTCATCCCTCACTTTCTCCTTTTTTTCTTTTCTCCCCTTTCCTGACCATCCCTCGACCTCAGCAGGCCTTCTTCAACACTACTATCTCCTTTCCTCCATCCCTGCAGCGACTTTTGCTCAAAGGTGAAGAACACCATCTACTGCAACGTGGAGCCATCGGAATCAAATATGCGCTGGGCACCTGAGTTCATGATCGACACTCTAGAGAACCCTGCAGCTCACACCTTCACCTACACGGGGCTAGGCAAGAGTCTTAGTGAGAACCCTGCTAACCGCTACAGCTTTGTCTGCAATGCCCTTATGCACGTCTGTGTGGGGCACCATGATCCCGATAGGTATGGGGTGTACTGAGTGAGGAAGGGCACCATGCCCCCATCTGAGATAGGGAGGGCTGAGGTACCCGGGAGGTACTACAACCTTGATTATTTAGTGGGGCAGAGATGAGAAGTTAATGGGTCTGAGGTTTTGTGGAGCAAGGTTTTTCCTGAGGGCATTTGTACTTTTCCCTAGGGTGAATGACATCGCAATCCTGTGTGCAGAGCTGACCGGCTATTGCAAGTCACTGAGTGCAGAATGGCTAGGAGTGCTTAAGGCCTTGTGCTGCTCCTCTAACAATGGCACTTGTGGTTTCAACGATCTCCTCTGCAATGTTGATGTGAGACTTGGGGTGGGGTTTTGCTAGTGGGGCAGTGACCAGGGCAGGGGGCTGGTTGTGATCCTCTGACCAGGGACAGAGTTCCGTAGAGTGGAGGCACACCGCTTTGAGTGGGCCTCCACACTGAGTCATGGTGTCTGTCTGTTTTTTCCTCCAGGTCAGTGACCTATCTTTTCATGACTCGCTGGCTACTTTTGTTGCCATCCTCATCGCTCGGCAGTGTTTGCTCCTGGAAGATCTGATTCGCTGTGCTGCCATCCCTTCACTCCTTAATGCTGGTGAACTACCAATCTGTAACCCCTAGCATTTCTAGACCTCAAATTTCAATACACACTGGACGGCCATCCTCTCATTGTTCACTGTGGGAGACCTTGCTGCGGCTCCCTGGCCTTCCTCAGAAGGCCAGTCCTTTGGTATGCTGAAGGCTAGAAGAAACCTGTTTTTTAGCCCTGGATTTGCAGCCCTGACCTTTCCAATTTCTGACCCTTCAACTGCGTAACAGTTCTCTGCTCTACCTCGCTTTCAATATTATCTTGCTTTTTCTCCTTTCACTTTACCTCATCTTCTCTCCCATGCCCCTGCCATACACTTGCATGCATGCAGGCACGCACACACATAAACCCACATACAGTTTAACTTCATCCCTTCCAGATCTGTTTTGTCTTCCTTTTAGCTTGTAGTGAACAGGACTCTGAGCCAGGGGCCCGGCTTACCTGCCGCATCCTCCTTCACCTTTTCAAGACACCGCAGCTCAATCCTTGCCAGTCTGATGGAAGTAAGTGACCCTGATCTGAACCAGCCAACAGTAGAAAGTGTGGTTCCCCTGCCTCCGTGGATTCTACTTTTGCTTCCCCTGACTTCATCGCCTTCCCCAGACAAGCCTACAGTAGGAATCCGCTCCTCCTGCGACCGCCACCTGCTGGCTGCCTCCCAGAACCGCATCGTGGATGGAGCCGTGTTTGCTGTTCTCAAGGCTGTGTTTGTACTTGGTACGGGGGTAGGAAGGGAGTGGTGCCAGAAGTGTGTATAGGGTGGAGTGCCAGCTAAACTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCCCATATTCCTAACCCCCTCACTGGTTGTTCCCAGTCCCTGATTGTCAGCTTCCTCAGGAATGGGTAGGAGAACGTTGCCTTAAGTCTCTGTGTGAGGACAGCAATGACCTGCAAGACCCAGTGTTGAGTAGTGCCCAGGCGCAGCGCCTCATGCAGCTCATTTGCTATCCACATCGACTGCTGGACAATGAGGATGGGGAAAACCCCCAGCGGCAGCGCATAAAGCGCATTCTCCAGGTAGGCCAAGGCCGTGGGGGCTGTGGAGGAAGCAGTGGGCCCAATCTGGGGAGAAACAATAGGAACCTTGAGAAAAGGAGAGGGGCAGTTAAGTAGAGAGGAAGACAAACAAGGATATAGGGGAGGGGAGAGGTAGCGAGAGAAACAGCTCCAGCATGGGCTGAGGAGTAAGTCCAGTAGGGTCTAGACTCCAGTGTAAGAGTATTAGGTGAGGGCATAGCTATCTGGAGTGAATCTAGCTTATCAATGGGAAGCATAGCATCTGGGAGGCCTAGGTGTGGGCCGTGTATATTTGGCATTTTGGCCATGGCTCAGGAACTGAATAGTAATAGCTACTACTTGCTGAGCATGTGCTTTGTGCCAGGTACTGTGCTAGGCACTCTGCACACATTTCCTCATTTAATCTTTATGACCCTATGAAGTAGGTGAGCCTCCCTGTTTGACCGATGAGGAAACTGAGGCTTGAAGAGGTTAAGTAACTTGTCTAACGTCACATAGCCCATAAGTTTAGAGTCAATA
AGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCTATCCTGTGGTGGCTCCAGCAGGAAGGGGCTCAGGCCCAGCCTTGCCAGCGTCCCCACAGGAAGGTGGTTTCTATGTAACACAAGGGGCCTCTTTGCATTTCTCACCCCCGTTTACTCTGCTAGCTGCTGAATGAACTGAGTGTAGTTGAGGCTGAGCTGCTTCTCAAATCCTCGGATCTGGTGGGCAGCTACACTACTAGCCTGTGCCTGTGCATCGTGGCTGTCCTGCGGCACTATCATGCCTGCCTCATCCTCAACCAGGACCAGATGGCACAGGTCTTTGAGGGGTAAGCAGAGCTTCGGAATAACTGAAACAAAGCTCTGGCGAATGCCGGTGGAAGTGGCCTGGGAAGAGCATGCACTTCCTCACACTCTGGGGAAGCACCTGCTGCTCAGGTGGGAAAAGAATGGTATTTCCCAGAGGCTTGAATCTGTTTGGAGGAGCCCGCATACCATCTGCTGACCCTCCCAACCTTGCTTCTTCATGCAGGCTGTGTGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGAGCGCTGTATCCTTGCTTATCTCTATGATCTGTACACCTCCTGTAGCCATTTAAAGAACAAATTTGGGGAGCTCTTCAGGTAAGAGAGGTGGAAGGTAAGGGGTAGCGAGTGGGACCTACTCCCTTCTTCCCATGACCACCCAACTCAGGAGGAGAGGATGGCCCGGGACCCTGCTGCCTGTCTAGGGTCATTTGTGGACTGTGTCCTCCACATACTGTTGTGTTACCAAGAGTGGGCCCTCTTCCTCAGCAGGCTTGCTCCCCGCCTATATCTGTGGGGCCCACCCTCTTCCCCCTTTTCCTCACTGCCTTCAGAGGCCCCAGTTCCTTATTCCCATGTGGTTCCTTTCCTGCCCAGTCTGTTTTGTCCCATCTCCCTTTTCTTGTCTCAAGATCCTTCATCCCTCACTTTCTCCTTTTTTTCTTTTCTCCCCTTTCCTGACCATCCCTCGACCTCAGCAGGCCTTCTTCAACACTACTATCTCCTTTCCTCCATCCCTGCAGCGACTTTTGCTCAAAGGTGAAGAACACCATCTACTGCAACGTGGAGCCATCGGAATCAAATATGCGCTGGGCACCTGAGTTCATGATCGACACTCTAGAGAACCCTGCAGCTCACACCTTCACCTACACGGGGCTAGGCAAGAGTCTTAGTGAGAACCCTGCTAACCGCTACAGCTTTGTCTGCAATGCCCTTATGCACGTCTGTGTGGGGCACCATGATCCCGATAGGTATGGGGTGTACTGAGTGAGGAAGGGCACCATGCCCCCATCTGAGATAGGGAGGGCTGAGGTACCCGGGAGGTACTACAACCTTGATTATTTAGTGGGGCAGAGATGAGAAGTTAATGGGTCTGAGGTTTTGTGGAGCAAGGTTTTTCCTGAGGGCATTTGTACTTTTCCCTAGGGTGAATGACATCGCAATCCTGTGTGCAGAGCTGACCGGCTATTGCAAGTCACTGAGTGCAGAATGGCTAGGAGTGCTTAAGGCCTTGTGCTGCTCCTCTAACAATGGCACTTGTGGTTTCAACGATCTCCTCTGCAATGTTGATGTGAGACTTGGGGTGGGGTTTTGCTAGTGGGGCAGTGACCAGGGCAGGGGGCTGGTTGTGATCCTCTGACCAGGGACAGAGTTCCGTAGAGTGGAGGCACACCGCTTTGAGTGGGCCTCCACACTGAGTCATGGTGTCTGTCTGTTTTTTCCTCCAGGTCAGTGACCTATCTTTTCATGACTCGCTGGCTACTTTTGTTGCCATCCTCATCGCTCGGCAGTGTTTGCTCCTGGAAGATCTGATTCACTGTGCTGCCATCCCTTCACTCCTTAATGCTGGTGAACTACCAATCTGTAACCCCTAGCATTTCTAGACCTCAAATTTCAATACACACTGGACGGCCATCCTCTCATTGTTCACTGTGGGAGACCTTGCTGCGGCTCCCTGGCCTTCCTCAGAAGGCCAGTCCTTTGGTATGCTGAAGGCTAGAAGAAACCTGTTTTTTAGCCCTGGATTTGCAGCCCTGACCTTTCCAATTTCTGACCCTTCAACTGCGTAACAGTTCTCTGCTCTACCTCGCTTTCAATATTATCTTGCTTTTTCTCCTTTCACTTTACCTCATCTTCTCTCCCATGCCCCTGCCATACACTTGCATGCATGCAGGCACGCACACACATAAACCCACATACAGTTTAACTTCATCCCTTCCAGATCTGTTTTGTCTTCCTTTTAGCTTGTAGTGAACAGGACTCTGAGCCAGGGGCCCGGCTTACCTGCCGCATCCTCCTTCACCTTTTCAAGACACCGCAGCTCAATCCTTGCCAGTCTGATGGAAGTAAGTGACCCTGATCTGAACCAGCCAACAGTAGAAAGTGTGGTTCCCCTGCCTCCGTGGATTCTACTTTTGCTTCCCCTGACTTCATCGCCTTCCCCAGACAAGCCTACAGTAGGAATCCGCTCCTCCTGCGACCGCCACCTGCTGGCTGCCTCCCAGAACCGCATCGTGGATGGAGCCGTGTTTGCTGTTCTCAAGGCTGTGTTTGTACTTGGTACGGGGGTAGGAAGGGAGTGGTGCCAGAAGTGTGTATAGGGTGGAGTGCCAGCTAAACTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCCCATATTCCTAACCCCCTCACTGGTTGTTCCCAGTCCCTGATTGTCAGCTTCCTCAGGAATGGGTAGGAGAACGTTGCCTTAAGTCTCTGTGTGAGGACAGCAATGACCTGCAAGACCCAGTGTTGAGTAGTGCCCAGGCGCAGCGCCTCATGCAGCTCATTTGCTATCCACATCGACTGCTGGACAATGAGGATGGGGAAAACCCCCAGCGGCAGCGCATAAAGCGCATTCTCCAGGTAGGCCAAGGCCGTGGGGGCTGTGGAGGAAGCAGTGGGCCCAATCTGGGGAGAAACAATAGGAACCTTGAGAAAAGGAGAGGGGCAGTTAAGTAGAGAGGAAGACAAACAAGGATATAGGGGAGGGGAGAGGTAGCGAGAGAAACAGCTCCAGCATGGGCTGAGGAGTAAGTCCAGTAGGGTCTAGACTCCAGTGTAAGAGTATTAGGTGAGGGCATAGCTATCTGGAGTGAATCTAGCTTATCAATGGGAAGCATAGCATCTGGGAGGCCTAGGTGTGGGCCGTGTATATTTGGCATTTTGGCCATGGCTCAGGAACTGAATAGTAATAGCTACTACTTGCTGAGCATGTGCTTTGTGCCAGGTACTGTGCTAGGCACTCTGCACACATTTCCTCATTTAATCTTTATGACCCTATGAAGTAGGTGAGCCTCCCTGTTTGACCGATGAGGAAACTGAGGCTTGAAGAGGTTAAGTAACTTGTCTAACGTCACATAGCCCATAAGTTTAGAGTCAATA
Task1_train_30286
This sequence change occurs on Chromosome X, altering MED12 (mediator complex subunit 12). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Blepharophimosis - intellectual disability syndrome, MKB type
CATGCCTGCCTCATCCTCAACCAGGACCAGATGGCACAGGTCTTTGAGGGGTAAGCAGAGCTTCGGAATAACTGAAACAAAGCTCTGGCGAATGCCGGTGGAAGTGGCCTGGGAAGAGCATGCACTTCCTCACACTCTGGGGAAGCACCTGCTGCTCAGGTGGGAAAAGAATGGTATTTCCCAGAGGCTTGAATCTGTTTGGAGGAGCCCGCATACCATCTGCTGACCCTCCCAACCTTGCTTCTTCATGCAGGCTGTGTGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGAGCGCTGTATCCTTGCTTATCTCTATGATCTGTACACCTCCTGTAGCCATTTAAAGAACAAATTTGGGGAGCTCTTCAGGTAAGAGAGGTGGAAGGTAAGGGGTAGCGAGTGGGACCTACTCCCTTCTTCCCATGACCACCCAACTCAGGAGGAGAGGATGGCCCGGGACCCTGCTGCCTGTCTAGGGTCATTTGTGGACTGTGTCCTCCACATACTGTTGTGTTACCAAGAGTGGGCCCTCTTCCTCAGCAGGCTTGCTCCCCGCCTATATCTGTGGGGCCCACCCTCTTCCCCCTTTTCCTCACTGCCTTCAGAGGCCCCAGTTCCTTATTCCCATGTGGTTCCTTTCCTGCCCAGTCTGTTTTGTCCCATCTCCCTTTTCTTGTCTCAAGATCCTTCATCCCTCACTTTCTCCTTTTTTTCTTTTCTCCCCTTTCCTGACCATCCCTCGACCTCAGCAGGCCTTCTTCAACACTACTATCTCCTTTCCTCCATCCCTGCAGCGACTTTTGCTCAAAGGTGAAGAACACCATCTACTGCAACGTGGAGCCATCGGAATCAAATATGCGCTGGGCACCTGAGTTCATGATCGACACTCTAGAGAACCCTGCAGCTCACACCTTCACCTACACGGGGCTAGGCAAGAGTCTTAGTGAGAACCCTGCTAACCGCTACAGCTTTGTCTGCAATGCCCTTATGCACGTCTGTGTGGGGCACCATGATCCCGATAGGTATGGGGTGTACTGAGTGAGGAAGGGCACCATGCCCCCATCTGAGATAGGGAGGGCTGAGGTACCCGGGAGGTACTACAACCTTGATTATTTAGTGGGGCAGAGATGAGAAGTTAATGGGTCTGAGGTTTTGTGGAGCAAGGTTTTTCCTGAGGGCATTTGTACTTTTCCCTAGGGTGAATGACATCGCAATCCTGTGTGCAGAGCTGACCGGCTATTGCAAGTCACTGAGTGCAGAATGGCTAGGAGTGCTTAAGGCCTTGTGCTGCTCCTCTAACAATGGCACTTGTGGTTTCAACGATCTCCTCTGCAATGTTGATGTGAGACTTGGGGTGGGGTTTTGCTAGTGGGGCAGTGACCAGGGCAGGGGGCTGGTTGTGATCCTCTGACCAGGGACAGAGTTCCGTAGAGTGGAGGCACACCGCTTTGAGTGGGCCTCCACACTGAGTCATGGTGTCTGTCTGTTTTTTCCTCCAGGTCAGTGACCTATCTTTTCATGACTCGCTGGCTACTTTTGTTGCCATCCTCATCGCTCGGCAGTGTTTGCTCCTGGAAGATCTGATTCGCTGTGCTGCCATCCCTTCACTCCTTAATGCTGGTGAACTACCAATCTGTAACCCCTAGCATTTCTAGACCTCAAATTTCAATACACACTGGACGGCCATCCTCTCATTGTTCACTGTGGGAGACCTTGCTGCGGCTCCCTGGCCTTCCTCAGAAGGCCAGTCCTTTGGTATGCTGAAGGCTAGAAGAAACCTGTTTTTTAGCCCTGGATTTGCAGCCCTGACCTTTCCAATTTCTGACCCTTCAACTGCGTAACAGTTCTCTGCTCTACCTCGCTTTCAATATTATCTTGCTTTTTCTCCTTTCACTTTACCTCATCTTCTCTCCCATGCCCCTGCCATACACTTGCATGCATGCAGGCACGCACACACATAAACCCACATACAGTTTAACTTCATCCCTTCCAGATCTGTTTTGTCTTCCTTTTAGCTTGTAGTGAACAGGACTCTGAGCCAGGGGCCCGGCTTACCTGCCGCATCCTCCTTCACCTTTTCAAGACACCGCAGCTCAATCCTTGCCAGTCTGATGGAAGTAAGTGACCCTGATCTGAACCAGCCAACAGTAGAAAGTGTGGTTCCCCTGCCTCCGTGGATTCTACTTTTGCTTCCCCTGACTTCATCGCCTTCCCCAGACAAGCCTACAGTAGGAATCCGCTCCTCCTGCGACCGCCACCTGCTGGCTGCCTCCCAGAACCGCATCGTGGATGGAGCCGTGTTTGCTGTTCTCAAGGCTGTGTTTGTACTTGGTACGGGGGTAGGAAGGGAGTGGTGCCAGAAGTGTGTATAGGGTGGAGTGCCAGCTAAACTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCCCATATTCCTAACCCCCTCACTGGTTGTTCCCAGTCCCTGATTGTCAGCTTCCTCAGGAATGGGTAGGAGAACGTTGCCTTAAGTCTCTGTGTGAGGACAGCAATGACCTGCAAGACCCAGTGTTGAGTAGTGCCCAGGCGCAGCGCCTCATGCAGCTCATTTGCTATCCACATCGACTGCTGGACAATGAGGATGGGGAAAACCCCCAGCGGCAGCGCATAAAGCGCATTCTCCAGGTAGGCCAAGGCCGTGGGGGCTGTGGAGGAAGCAGTGGGCCCAATCTGGGGAGAAACAATAGGAACCTTGAGAAAAGGAGAGGGGCAGTTAAGTAGAGAGGAAGACAAACAAGGATATAGGGGAGGGGAGAGGTAGCGAGAGAAACAGCTCCAGCATGGGCTGAGGAGTAAGTCCAGTAGGGTCTAGACTCCAGTGTAAGAGTATTAGGTGAGGGCATAGCTATCTGGAGTGAATCTAGCTTATCAATGGGAAGCATAGCATCTGGGAGGCCTAGGTGTGGGCCGTGTATATTTGGCATTTTGGCCATGGCTCAGGAACTGAATAGTAATAGCTACTACTTGCTGAGCATGTGCTTTGTGCCAGGTACTGTGCTAGGCACTCTGCACACATTTCCTCATTTAATCTTTATGACCCTATGAAGTAGGTGAGCCTCCCTGTTTGACCGATGAGGAAACTGAGGCTTGAAGAGGTTAAGTAACTTGTCTAACGTCACATAGCCCATAAGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGG
CATGCCTGCCTCATCCTCAACCAGGACCAGATGGCACAGGTCTTTGAGGGGTAAGCAGAGCTTCGGAATAACTGAAACAAAGCTCTGGCGAATGCCGGTGGAAGTGGCCTGGGAAGAGCATGCACTTCCTCACACTCTGGGGAAGCACCTGCTGCTCAGGTGGGAAAAGAATGGTATTTCCCAGAGGCTTGAATCTGTTTGGAGGAGCCCGCATACCATCTGCTGACCCTCCCAACCTTGCTTCTTCATGCAGGCTGTGTGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGAGCGCTGTATCCTTGCTTATCTCTATGATCTGTACACCTCCTGTAGCCATTTAAAGAACAAATTTGGGGAGCTCTTCAGGTAAGAGAGGTGGAAGGTAAGGGGTAGCGAGTGGGACCTACTCCCTTCTTCCCATGACCACCCAACTCAGGAGGAGAGGATGGCCCGGGACCCTGCTGCCTGTCTAGGGTCATTTGTGGACTGTGTCCTCCACATACTGTTGTGTTACCAAGAGTGGGCCCTCTTCCTCAGCAGGCTTGCTCCCCGCCTATATCTGTGGGGCCCACCCTCTTCCCCCTTTTCCTCACTGCCTTCAGAGGCCCCAGTTCCTTATTCCCATGTGGTTCCTTTCCTGCCCAGTCTGTTTTGTCCCATCTCCCTTTTCTTGTCTCAAGATCCTTCATCCCTCACTTTCTCCTTTTTTTCTTTTCTCCCCTTTCCTGACCATCCCTCGACCTCAGCAGGCCTTCTTCAACACTACTATCTCCTTTCCTCCATCCCTGCAGCGACTTTTGCTCAAAGGTGAAGAACACCATCTACTGCAACGTGGAGCCATCGGAATCAAATATGCGCTGGGCACCTGAGTTCATGATCGACACTCTAGAGAACCCTGCAGCTCACACCTTCACCTACACGGGGCTAGGCAAGAGTCTTAGTGAGAACCCTGCTAACCGCTACAGCTTTGTCTGCAATGCCCTTATGCACGTCTGTGTGGGGCACCATGATCCCGATAGGTATGGGGTGTACTGAGTGAGGAAGGGCACCATGCCCCCATCTGAGATAGGGAGGGCTGAGGTACCCGGGAGGTACTACAACCTTGATTATTTAGTGGGGCAGAGATGAGAAGTTAATGGGTCTGAGGTTTTGTGGAGCAAGGTTTTTCCTGAGGGCATTTGTACTTTTCCCTAGGGTGAATGACATCGCAATCCTGTGTGCAGAGCTGACCGGCTATTGCAAGTCACTGAGTGCAGAATGGCTAGGAGTGCTTAAGGCCTTGTGCTGCTCCTCTAACAATGGCACTTGTGGTTTCAACGATCTCCTCTGCAATGTTGATGTGAGACTTGGGGTGGGGTTTTGCTAGTGGGGCAGTGACCAGGGCAGGGGGCTGGTTGTGATCCTCTGACCAGGGACAGAGTTCCGTAGAGTGGAGGCACACCGCTTTGAGTGGGCCTCCACACTGAGTCATGGTGTCTGTCTGTTTTTTCCTCCAGGTCAGTGACCTATCTTTTCATGACTCGCTGGCTACTTTTGTTGCCATCCTCATCGCTCGGCAGTGTTTGCTCCTGGAAGATCTGATTCGCTGTGCTGCCATCCCTTCACTCCTTAATGCTGGTGAACTACCAATCTGTAACCCCTAGCATTTCTAGACCTCAAATTTCAATACACACTGGACGGCCATCCTCTCATTGTTCACTGTGGGAGACCTTGCTGCGGCTCCCTGGCCTTCCTCAGAAGGCCAGTCCTTTGGTATGCTGAAGGCTAGAAGAAACCTGTTTTTTAGCCCTGGATTTGCAGCCCTGACCTTTCCAATTTCTGACCCTTCAACTGCGTAACAGTTCTCTGCTCTACCTCGCTTTCAATATTATCTTGCTTTTTCTCCTTTCACTTTACCTCATCTTCTCTCCCATGCCCCTGCCATACACTTGCATGCATGCAGGCACGCACACACATAAACCCACATACAGTTTAACTTCATCCCTTCCAGATCTGTTTTGTCTTCCTTTTAGCTTGTAGTGAACAGGACCCTGAGCCAGGGGCCCGGCTTACCTGCCGCATCCTCCTTCACCTTTTCAAGACACCGCAGCTCAATCCTTGCCAGTCTGATGGAAGTAAGTGACCCTGATCTGAACCAGCCAACAGTAGAAAGTGTGGTTCCCCTGCCTCCGTGGATTCTACTTTTGCTTCCCCTGACTTCATCGCCTTCCCCAGACAAGCCTACAGTAGGAATCCGCTCCTCCTGCGACCGCCACCTGCTGGCTGCCTCCCAGAACCGCATCGTGGATGGAGCCGTGTTTGCTGTTCTCAAGGCTGTGTTTGTACTTGGTACGGGGGTAGGAAGGGAGTGGTGCCAGAAGTGTGTATAGGGTGGAGTGCCAGCTAAACTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCCCATATTCCTAACCCCCTCACTGGTTGTTCCCAGTCCCTGATTGTCAGCTTCCTCAGGAATGGGTAGGAGAACGTTGCCTTAAGTCTCTGTGTGAGGACAGCAATGACCTGCAAGACCCAGTGTTGAGTAGTGCCCAGGCGCAGCGCCTCATGCAGCTCATTTGCTATCCACATCGACTGCTGGACAATGAGGATGGGGAAAACCCCCAGCGGCAGCGCATAAAGCGCATTCTCCAGGTAGGCCAAGGCCGTGGGGGCTGTGGAGGAAGCAGTGGGCCCAATCTGGGGAGAAACAATAGGAACCTTGAGAAAAGGAGAGGGGCAGTTAAGTAGAGAGGAAGACAAACAAGGATATAGGGGAGGGGAGAGGTAGCGAGAGAAACAGCTCCAGCATGGGCTGAGGAGTAAGTCCAGTAGGGTCTAGACTCCAGTGTAAGAGTATTAGGTGAGGGCATAGCTATCTGGAGTGAATCTAGCTTATCAATGGGAAGCATAGCATCTGGGAGGCCTAGGTGTGGGCCGTGTATATTTGGCATTTTGGCCATGGCTCAGGAACTGAATAGTAATAGCTACTACTTGCTGAGCATGTGCTTTGTGCCAGGTACTGTGCTAGGCACTCTGCACACATTTCCTCATTTAATCTTTATGACCCTATGAAGTAGGTGAGCCTCCCTGTTTGACCGATGAGGAAACTGAGGCTTGAAGAGGTTAAGTAACTTGTCTAACGTCACATAGCCCATAAGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGG
Task1_train_30287
A mutation on Chromosome X affecting MED12 (mediator complex subunit 12) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; FG syndrome
TCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCCCATATTCCTAACCCCCTCACTGGTTGTTCCCAGTCCCTGATTGTCAGCTTCCTCAGGAATGGGTAGGAGAACGTTGCCTTAAGTCTCTGTGTGAGGACAGCAATGACCTGCAAGACCCAGTGTTGAGTAGTGCCCAGGCGCAGCGCCTCATGCAGCTCATTTGCTATCCACATCGACTGCTGGACAATGAGGATGGGGAAAACCCCCAGCGGCAGCGCATAAAGCGCATTCTCCAGGTAGGCCAAGGCCGTGGGGGCTGTGGAGGAAGCAGTGGGCCCAATCTGGGGAGAAACAATAGGAACCTTGAGAAAAGGAGAGGGGCAGTTAAGTAGAGAGGAAGACAAACAAGGATATAGGGGAGGGGAGAGGTAGCGAGAGAAACAGCTCCAGCATGGGCTGAGGAGTAAGTCCAGTAGGGTCTAGACTCCAGTGTAAGAGTATTAGGTGAGGGCATAGCTATCTGGAGTGAATCTAGCTTATCAATGGGAAGCATAGCATCTGGGAGGCCTAGGTGTGGGCCGTGTATATTTGGCATTTTGGCCATGGCTCAGGAACTGAATAGTAATAGCTACTACTTGCTGAGCATGTGCTTTGTGCCAGGTACTGTGCTAGGCACTCTGCACACATTTCCTCATTTAATCTTTATGACCCTATGAAGTAGGTGAGCCTCCCTGTTTGACCGATGAGGAAACTGAGGCTTGAAGAGGTTAAGTAACTTGTCTAACGTCACATAGCCCATAAGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTCGCCCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCAGCCTCCCTAAATGTAGTCTTTCTTAAAGATGGGGACATAGAGGTCCCTTTCAGACCTCCAGGAGTCTGTGATTCAATGTTGCAGGAGATCAGGAATTGGCCTCAGATTGTTGGGTAGCTGGGGGTAACACGATGATGACTAGCCTGGGTGTGGGGCCTCTATCACAGAACTTGGACCAGTGGACCATGCGCCAGTCTTCCTTGGAGCTGCAGCTCATGATCAAGCAGACCCCTAACAATGTGAGTAGTGCCTGGACCCTCCCTTTCCTGTGCTCACGTTCAGCTCCATGTGTCAGGGAGGCGGTCCACCACAGAAGAACCTAGATCCTACCCTTGGGCTCTTGAGCTGAGAGATAAGAGGGGATGGGAAAATGGTGAACAAGTGGAGCTGATGATAAGGGAAATGGGTTGAGAGTGTTGGAGCTCTGAGCTGTGGGGAAGCTTGGTGGTGGTGGTGGAGCCTGTTTCTCTGGCCATAGATGTAAGGAGGTATGTAAAGGAGAAGACAGTGAGGAATTGGAGAAATATGGAGGTACTAGAGGGCATGATTCCCAACAGAGTTGCGTTCCTATCTCCCCATCAATCTCCGCCAGTGTTGTCCTTCTCCGTCATCTCCGATCTCTCCTACCATCTGCTTTCCTTCACCCTTAGCTACCTATTTTAGCACTTCTGTGCCTTTCATCCTCCCCAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGTCAGCAGAGACAGGGTCATCTTCTGGAAGTACTGCAAGCAACATGCCCAGCAGCAGCAAGACCAAGCCTGTGCTCAGGTCGGATAGAAACATGTTAGGACCCATCCCCTTAGGAGTTTATCTGCTGGTAGCGTGAGTGATATCAGATGCGTGGAGATGCCAGCATGTCCATCAGGGAAAGGAGAGGATAGATTGTTCCAGCCTTGCCTGGCTCCCCTGTGACCCTGTGTCCTCTGTCTGTTCTCCAGCTCTCTAGAGCGCTCTGGTGTATGGCTGGTGGCCCCCCTCATTGCTAAACTGCCCACCTCAGTCCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCACCTGGGTTCCTCTTCACGCAAAGAACGTGATCGACAAAAGCAGAAGAGGTAAAGGGGCTTAGGGAGTGGACCAAGATTGAGGGGTAGAAAGGAGAAGAGGCAGGCCCGGGGAAGAATAAAATGGGCCAAGGAGAAGCATCATAGGAAAGTGGAAAATCAGAGGATAAGAGTGGGCATGGCTGAGCAAGAGGCTAGATCTTAAGAGAGTAGTCTGGAGAATGAGGTTGGAAGTTGACTCCCAACCCACAGTCTCCCTTTTCTCCTCTCCTCTTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTTGTCTCTAGCATGTCCCTATTGAGCCAGCAGCCCTTCTTATCGCTGGTGCTAACATGTCTGAAAGGGCAGGATGAACAACGCGAGGGACTCCTTACCTCCCTCTACAGCCAGGTGCACCAGGTACAGATCTCTGGGCCATGGAGGTGGGCAGGAGGTCAGGGAAGGATGCACCTAAGGGGTTACTCTGTACTTGGAAACTTCAGTACTTTCTGATAAACATATTGGCTGCTGTGGGATGGAAACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGGTAGGGCTGGAAATGCGGAGTGCAAAAGCCTCAGGTTGGGGAGAATGGGGGTAAGGATAGAGGCCCCAGGTTATTCTGAGTCTTGAAGGGTTTTTTTTTTTTTTGGAGTCAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCTGGCTAATTTTTGTATTTTTCATAGAGATGGGGTTTGACCATGCTGGTCAGGCTGGTCTTGAACTCCTTACCTCAAATGATCCGTCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGC
TCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCCCATATTCCTAACCCCCTCACTGGTTGTTCCCAGTCCCTGATTGTCAGCTTCCTCAGGAATGGGTAGGAGAACGTTGCCTTAAGTCTCTGTGTGAGGACAGCAATGACCTGCAAGACCCAGTGTTGAGTAGTGCCCAGGCGCAGCGCCTCATGCAGCTCATTTGCTATCCACATCGACTGCTGGACAATGAGGATGGGGAAAACCCCCAGCGGCAGCGCATAAAGCGCATTCTCCAGGTAGGCCAAGGCCGTGGGGGCTGTGGAGGAAGCAGTGGGCCCAATCTGGGGAGAAACAATAGGAACCTTGAGAAAAGGAGAGGGGCAGTTAAGTAGAGAGGAAGACAAACAAGGATATAGGGGAGGGGAGAGGTAGCGAGAGAAACAGCTCCAGCATGGGCTGAGGAGTAAGTCCAGTAGGGTCTAGACTCCAGTGTAAGAGTATTAGGTGAGGGCATAGCTATCTGGAGTGAATCTAGCTTATCAATGGGAAGCATAGCATCTGGGAGGCCTAGGTGTGGGCCGTGTATATTTGGCATTTTGGCCATGGCTCAGGAACTGAATAGTAATAGCTACTACTTGCTGAGCATGTGCTTTGTGCCAGGTACTGTGCTAGGCACTCTGCACACATTTCCTCATTTAATCTTTATGACCCTATGAAGTAGGTGAGCCTCCCTGTTTGACCGATGAGGAAACTGAGGCTTGAAGAGGTTAAGTAACTTGTCTAACGTCACATAGCCCATAAGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTCGCCCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCAGCCTCCCTAAATGTAGTCTTTCTTAAAGATGGGGACATAGAGGTCCCTTTCAGACCTCCAGGAGTCTGTGATTCAATGTTGCAGGAGATCAGGAATTGGCCTCAGATTGTTGGGTAGCTGGGGGTAACACGATGATGACTAGCCTGGGTGTGGGGCCTCTATCACAGAACTTGGACCAGTGGACCATGCACCAGTCTTCCTTGGAGCTGCAGCTCATGATCAAGCAGACCCCTAACAATGTGAGTAGTGCCTGGACCCTCCCTTTCCTGTGCTCACGTTCAGCTCCATGTGTCAGGGAGGCGGTCCACCACAGAAGAACCTAGATCCTACCCTTGGGCTCTTGAGCTGAGAGATAAGAGGGGATGGGAAAATGGTGAACAAGTGGAGCTGATGATAAGGGAAATGGGTTGAGAGTGTTGGAGCTCTGAGCTGTGGGGAAGCTTGGTGGTGGTGGTGGAGCCTGTTTCTCTGGCCATAGATGTAAGGAGGTATGTAAAGGAGAAGACAGTGAGGAATTGGAGAAATATGGAGGTACTAGAGGGCATGATTCCCAACAGAGTTGCGTTCCTATCTCCCCATCAATCTCCGCCAGTGTTGTCCTTCTCCGTCATCTCCGATCTCTCCTACCATCTGCTTTCCTTCACCCTTAGCTACCTATTTTAGCACTTCTGTGCCTTTCATCCTCCCCAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGTCAGCAGAGACAGGGTCATCTTCTGGAAGTACTGCAAGCAACATGCCCAGCAGCAGCAAGACCAAGCCTGTGCTCAGGTCGGATAGAAACATGTTAGGACCCATCCCCTTAGGAGTTTATCTGCTGGTAGCGTGAGTGATATCAGATGCGTGGAGATGCCAGCATGTCCATCAGGGAAAGGAGAGGATAGATTGTTCCAGCCTTGCCTGGCTCCCCTGTGACCCTGTGTCCTCTGTCTGTTCTCCAGCTCTCTAGAGCGCTCTGGTGTATGGCTGGTGGCCCCCCTCATTGCTAAACTGCCCACCTCAGTCCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCACCTGGGTTCCTCTTCACGCAAAGAACGTGATCGACAAAAGCAGAAGAGGTAAAGGGGCTTAGGGAGTGGACCAAGATTGAGGGGTAGAAAGGAGAAGAGGCAGGCCCGGGGAAGAATAAAATGGGCCAAGGAGAAGCATCATAGGAAAGTGGAAAATCAGAGGATAAGAGTGGGCATGGCTGAGCAAGAGGCTAGATCTTAAGAGAGTAGTCTGGAGAATGAGGTTGGAAGTTGACTCCCAACCCACAGTCTCCCTTTTCTCCTCTCCTCTTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTTGTCTCTAGCATGTCCCTATTGAGCCAGCAGCCCTTCTTATCGCTGGTGCTAACATGTCTGAAAGGGCAGGATGAACAACGCGAGGGACTCCTTACCTCCCTCTACAGCCAGGTGCACCAGGTACAGATCTCTGGGCCATGGAGGTGGGCAGGAGGTCAGGGAAGGATGCACCTAAGGGGTTACTCTGTACTTGGAAACTTCAGTACTTTCTGATAAACATATTGGCTGCTGTGGGATGGAAACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGGTAGGGCTGGAAATGCGGAGTGCAAAAGCCTCAGGTTGGGGAGAATGGGGGTAAGGATAGAGGCCCCAGGTTATTCTGAGTCTTGAAGGGTTTTTTTTTTTTTTGGAGTCAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCTGGCTAATTTTTGTATTTTTCATAGAGATGGGGTTTGACCATGCTGGTCAGGCTGGTCTTGAACTCCTTACCTCAAATGATCCGTCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGC
Task1_train_30288
With a mutation on Chromosome X in gene MED12 (mediator complex subunit 12), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Blepharophimosis - intellectual disability syndrome, MKB type
CCAGCAGACCACGGAGTGGGCCATGCTCCTCCTGGAGATCATCATCAGCGGCACTGTCGACATGCAGTCCAACAAGTAAAGCATCCCCACCCGCTCCCTGCAGTTTCATACCCAAGAAGCTCCCCCTACTCCCATGCCAGGTGCACCCACTGAGATTGGTGTGGCTGTTACTGTGGACTCCGTGGCCCTGGGCTCCCCATACAGTTTTGGTGCCCTTGGGATGACATATTAAGCACCTCTCCCTGCTTGTGTCCTCTGCTGAGGCCTTTTTCTATCTTCACCTCTTTCTTCTTTGGTTTTCTCTCTGGCTTCCTGTCTCAGTGAGCTCTTCACTACTGTGTTGGACATGCTGAGCGTGCTCATCAATGGGACATTGGCTGCAGACATGTCTAGCATCTCGCAAGGTAGCATGGAGGAAAACAAGCGTGCATACATGAACCTGGCGAAGAAGTTGCAGGTAAGCAGAGGAAGCGGGGGCAAGGTTTGCGGTTACTGGAATCTGCTGTCCAGCCTCAGGAACTTGCTTCTGGCTGGAGCCCTCTACCTTTCCTTCTCACGTCTGCCTTTTCTTTGTTACTCATGCCGTGAGCATTTACTGAGTGGGGGTCTTCTCTGTGCCAGGTTCTGTGCTGTCCCCTGAGACTTCCCATCCCTGTTTTCTGTATCTCTGAACTCTTGTCCCATCTTCCTGTGCCTGCAGAAGGAGTTGGGGGAGCGCCAGTCAGACAGTCTGGAAAAGGTTCGCCAGCTGCTGCCACTGCCCAAGCAGACCCGAGATGTCATCACGTGTGAGCCACAGGGCTCCCTTATCGATACCAAGGGCAACAAGATTGCTGGCTTCGATTCCATCTTCAAGAAGGAGGCATGTTCCATTGTCTGCCCGTGTCCCTTGCCTTTTTTCCCCTTTGGGCAAGAACTTTGCCTGCATCAGCTTTGTAGCTCCAACAGACTCATCAGATTCAGGAGCCCATCAGTCTCTGCCGGTGAACACCATCTCTGGGGTTTTGAGCAAATCACTTAACTTTCCTTACATTTCATCTCCATCTTTGAAGTCCCACCCTCTTTCCTTCACCCTGCCCTCACCTTTTAACATACCACCCATTTTTCAATACCCTACCCTCCTCTTTCCTCTGCTCCACCTGCCCCATGTCCTACCCCACCCATCTATCTGGCCGACAGCCTGTATCTCTTTTATTTCTGTGTTTCCCTACACCCACCCATCTCTGCACACTTTTATCTTTTCCCTCTCTGTCAGTTGCGGTATTTGTTGAGTAACCATAATTATTGTGTATAGTTTAAAACCCAAAGTCTAACTCCTTCATATATACATTCTCTTCATCTGTCTTCCTAGTCCATCTGTCTCTTTTCCTCCGTCTCTGTCTCTCTCCCTGTCTGACTCGTTTGCCTTTCTTTGTCTCTCCACCTTTTTGTCTCTCTCTTCCTGTTTCTTTCTCTCTCTGACTCTTTCTCGGCCTGCCTAAAGGCAGAGTCTCTCCCTGCCTTCCTCTCTCTCTTTCTCTGCCTTCCTTTTTCTGTCTTCCTCTGAATGTCAATCCCTCTCCCTCCCCGCTCCCTCTCTGGCTTTCTCCCCAACCCCTTTCTCTCCCGATCTTCTCTCCCCACACGCCCCCCGCCCCGTTAGTTCATCTCCTCTCCTGGTCTGGGCTGGCTTCATCTTGTGCCTCCACACCTCTCCCTGTGCCCCACCCTTCACTCTCTCCCCGCATAACTCTCTTCCGCATGTATATGTGTATCCATGTCTGTCTGTCTGCTTCTTACCATCTCTCCTGAATCTGCCTATGACTTTCTTTCTACCCATTCCTACAAATGCTTGCAGTCTTCTGTTTTCTAAGTCCCAACAGCTTATTGTTTTTCATTTTCTGGAGCAGGGTCTACAGGTTTCCACCAAACAGAAGATCTCGCCCTGGGATCTTTTTGAGGGGTTGAAGCCGTCAGCACCACTCTCTTGGGGCTGGTTTGGAACAGTCCGAGTGGACCGGCGAGTGGCTCGAGGAGAGGAGCAGCAGCGGTTGCTGCTCTACCACACACACCTGAGGCCCCGGCCCCGCGCCTATTACCTGGAGCCACTGCCACTGCCCCCAGAAGATGAGGAGCCGCCTGCTCCTACCCTGCTAGAGCCTGAGAAAAAGGCTCCAGAGCCCCCCAAAACTGACAAACCGGGGGCTGCTCCACCCAGTACTGAGGAACGCAAGAAGAAGTCCACCAAGGGCAAGAAACGCAGCCAGCCAGCTACCAAGACAGAGGTGAGCGCCTCCCCCGTGACAGTTCTCCCACAGCCTCTCACTTCATGACGCTCCGGTTTCTGGTTTGTGGGAGGGGTGGGGGCGCATAAGGAAGGGGTGCCATTAGAATCATAATAAAAATTAACCATATACGAATTCAGCTCCTCTTTACCTCATTCTCCCCCAGCTCCCCGACCCCATTCAGCTACAACCCACTCACCCTCTTCCTCTGCCACTCACACAGGACTATGGAATGGGCCCGGGTCGGAGCGGCCCTTATGGTGTGACAGTGCCTCCGGACCTCCTGCACCACCCAAACCCTGGTTCTATAACACACCTTAACTACAGGCAAGGCTCCATAGGCCTGTACACCCAGAACCAGCCACTACCTGCAGGTGAGTGCCAGCCACTAGGAATGCTGGAGGGACCTACCTGTACACTCCCCCTGCCCAAAGGATGATGCCATTCCCCTGAGGAGCTATGGATGTCAAGGACACTGAGCAAGAGACAGAGGGATGAGGAGCCTAGAGGTCAGCCCACTCTCCTTTTCAGGTGGCCCTCGTGTGGACCCATACCGTCCTGTGCGCTTACCAATGCAGAAGCTGCCCACCCGACCAACTTACCCTGGAGTGCTGCCCACAACCATGACTGGCGTCATGGGTTTAGAACCCTCCTCTTATAAGACCTCTGTGTACCGGCAGCAGCAACCTGCGGTGCCCCAAGGACAGCGCCTTCGCCAACAGCTCCAGGCAAAGATAGTGAGAGGGGCAGTAGGGAGGGCTGTCAGGGAGAGGGGCTTTTGAGGGTCACAGGACGGAGGAGACACTTGGGATCTTCACAAGGACACTCAGGGTGGGAGACACAAGAGATGAGATGGCAGCAAGCATTTCCTGAGTTTGAGTTGTTCTCTTTTCTCCCTTTAGCAGAGTCAGGGCATGTTGGGACAGTCATCTGTCCATCAGATGACTCCCAGCTCTTCCTACGGTTTGCAGACTTCCCAGGTAAGAGCCTGGGATTGTGAGACTAGGGGGATGAGGCAAGCTGCTCTGCATACTCTCGGCCCTGATTCCCTCTCTCCTTCTTCCCTCCAGGGCTATACTCCTTATGTTTCTCATGTGGGATTGCAGCAACACACAGGCCCTGCAGGTACCATGGTGCCCCCCAGCTACTCCAGCCAGCCTTACCAGAGCACCCACCCTTCTACCAATCCTACTCTTGTAGATCCTACCCGCCACCTGCAACAGCGGCCCAGTGGCTATGTGCACCAGCAGGCCCCCACCTATGGACATGGACTGACCTCCACTCAAAGGTACCCAAAGTAGTGGTGAGCTAGGAAGAGATGCAGAGGTATAAGGGAGCATTTGACTTGGGAAAGCCTGTGCCTGAAAGTGGTGGGACTGGTCAGAACTTTCGGAGACATCAAGAATACTTATCTGGCCACATAGCCCATAACCACAGAAGTCTCGAGCTGGAAGGGACCCTGGAGACCAATAGTTTCATGACTACTTCCTTAACAGTTCTTTGAGGCCCAGAGAGGGGAAATTGTTTATCTGACTCAAGGAAAAATCTGGGCTGGGTGTGGTAGCTCACACTGGTAGTCCCAGCACTTGGGGGCCCAAGGTGGGAGAATCAGTTGATTCCAGGAATTCGAGGCCAGCCTGGGCAACATAGGGAGATCCCATCTCTACAAAAAAAATACATATTTTTTTGAAACAGAGTCGCACTCCATTTGCCCAGGCTGGAGTGTCGTGGCATGATCATGGCTCACTGCAGCCTCGACCTCTGAGGCTCAGGTGATCCTCCTACCTCAGCCTCCCAAGTAGCTAGAACTACAGGCACACACCACCACGCCC
CCAGCAGACCACGGAGTGGGCCATGCTCCTCCTGGAGATCATCATCAGCGGCACTGTCGACATGCAGTCCAACAAGTAAAGCATCCCCACCCGCTCCCTGCAGTTTCATACCCAAGAAGCTCCCCCTACTCCCATGCCAGGTGCACCCACTGAGATTGGTGTGGCTGTTACTGTGGACTCCGTGGCCCTGGGCTCCCCATACAGTTTTGGTGCCCTTGGGATGACATATTAAGCACCTCTCCCTGCTTGTGTCCTCTGCTGAGGCCTTTTTCTATCTTCACCTCTTTCTTCTTTGGTTTTCTCTCTGGCTTCCTGTCTCAGTGAGCTCTTCACTACTGTGTTGGACATGCTGAGCGTGCTCATCAATGGGACATTGGCTGCAGACATGTCTAGCATCTCGCAAGGTAGCATGGAGGAAAACAAGCGTGCATACATGAACCTGGCGAAGAAGTTGCAGGTAAGCAGAGGAAGCGGGGGCAAGGTTTGCGGTTACTGGAATCTGCTGTCCAGCCTCAGGAACTTGCTTCTGGCTGGAGCCCTCTACCTTTCCTTCTCACGTCTGCCTTTTCTTTGTTACTCATGCCGTGAGCATTTACTGAGTGGGGGTCTTCTCTGTGCCAGGTTCTGTGCTGTCCCCTGAGACTTCCCATCCCTGTTTTCTGTATCTCTGAACTCTTGTCCCATCTTCCTGTGCCTGCAGAAGGAGTTGGGGGAGCGCCAGTCAGACAGTCTGGAAAAGGTTCGCCAGCTGCTGCCACTGCCCAAGCAGACCCGAGATGTCATCACGTGTGAGCCACAGGGCTCCCTTATCGATACCAAGGGCAACAAGATTGCTGGCTTCGATTCCATCTTCAAGAAGGAGGCATGTTCCATTGTCTGCCCGTGTCCCTTGCCTTTTTTCCCCTTTGGGCAAGAACTTTGCCTGCATCAGCTTTGTAGCTCCAACAGACTCATCAGATTCAGGAGCCCATCAGTCTCTGCCGGTGAACACCATCTCTGGGGTTTTGAGCAAATCACTTAACTTTCCTTACATTTCATCTCCATCTTTGAAGTCCCACCCTCTTTCCTTCACCCTGCCCTCACCTTTTAACATACCACCCATTTTTCAATACCCTACCCTCCTCTTTCCTCTGCTCCACCTGCCCCATGTCCTACCCCACCCATCTATCTGGCCGACAGCCTGTATCTCTTTTATTTCTGTGTTTCCCTACACCCACCCATCTCTGCACACTTTTATCTTTTCCCTCTCTGTCAGTTGCGGTATTTGTTGAGTAACCATAATTATTGTGTATAGTTTAAAACCCAAAGTCTAACTCCTTCATATATACATTCTCTTCATCTGTCTTCCTAGTCCATCTGTCTCTTTTCCTCCGTCTCTGTCTCTCTCCCTGTCTGACTCGTTTGCCTTTCTTTGTCTCTCCACCTTTTTGTCTCTCTCTTCCTGTTTCTTTCTCTCTCTGACTCTTTCTCGGCCTGCCTAAAGGCAGAGTCTCTCCCTGCCTTCCTCTCTCTCTTTCTCTGCCTTCCTTTTTCTGTCTTCCTCTGAATGTCAATCCCTCTCCCTCCCCGCTCCCTCTCTGGCTTTCTCCCCAACCCCTTTCTCTCCCGATCTTCTCTCCCCACACGCCCCCCGCCCCGTTAGTTCATCTCCTCTCCTGGTCTGGGCTGGCTTCATCTTGTGCCTCCACACCTCTCCCTGTGCCCCACCCTTCACTCTCTCCCCGCATAACTCTCTTCCGCATGTATATGTGTATCCATGTCTGTCTGTCTGCTTCTTACCATCTCTCCTGAATCTGCCTATGACTTTCTTTCTACCCATTCCTACAAATGCTTGCAGTCTTCTGTTTTCTAAGTCCCAACAGCTTATTGTTTTTCATTTTCTGGAGCAGGGTCTACAGGTTTCCACCAAACAGAAGATCTCGCCCTGGGATCTTTTTGAGGGGTTGAAGCCGTCAGCACCACTCTCTTGGGGCTGGTTTGGAACAGTCCGAGTGGACCGGCGAGTGGCTCGAGGAGAGGAGCAGCAGCGGTTGCTGCTCTACCACACAAACCTGAGGCCCCGGCCCCGCGCCTATTACCTGGAGCCACTGCCACTGCCCCCAGAAGATGAGGAGCCGCCTGCTCCTACCCTGCTAGAGCCTGAGAAAAAGGCTCCAGAGCCCCCCAAAACTGACAAACCGGGGGCTGCTCCACCCAGTACTGAGGAACGCAAGAAGAAGTCCACCAAGGGCAAGAAACGCAGCCAGCCAGCTACCAAGACAGAGGTGAGCGCCTCCCCCGTGACAGTTCTCCCACAGCCTCTCACTTCATGACGCTCCGGTTTCTGGTTTGTGGGAGGGGTGGGGGCGCATAAGGAAGGGGTGCCATTAGAATCATAATAAAAATTAACCATATACGAATTCAGCTCCTCTTTACCTCATTCTCCCCCAGCTCCCCGACCCCATTCAGCTACAACCCACTCACCCTCTTCCTCTGCCACTCACACAGGACTATGGAATGGGCCCGGGTCGGAGCGGCCCTTATGGTGTGACAGTGCCTCCGGACCTCCTGCACCACCCAAACCCTGGTTCTATAACACACCTTAACTACAGGCAAGGCTCCATAGGCCTGTACACCCAGAACCAGCCACTACCTGCAGGTGAGTGCCAGCCACTAGGAATGCTGGAGGGACCTACCTGTACACTCCCCCTGCCCAAAGGATGATGCCATTCCCCTGAGGAGCTATGGATGTCAAGGACACTGAGCAAGAGACAGAGGGATGAGGAGCCTAGAGGTCAGCCCACTCTCCTTTTCAGGTGGCCCTCGTGTGGACCCATACCGTCCTGTGCGCTTACCAATGCAGAAGCTGCCCACCCGACCAACTTACCCTGGAGTGCTGCCCACAACCATGACTGGCGTCATGGGTTTAGAACCCTCCTCTTATAAGACCTCTGTGTACCGGCAGCAGCAACCTGCGGTGCCCCAAGGACAGCGCCTTCGCCAACAGCTCCAGGCAAAGATAGTGAGAGGGGCAGTAGGGAGGGCTGTCAGGGAGAGGGGCTTTTGAGGGTCACAGGACGGAGGAGACACTTGGGATCTTCACAAGGACACTCAGGGTGGGAGACACAAGAGATGAGATGGCAGCAAGCATTTCCTGAGTTTGAGTTGTTCTCTTTTCTCCCTTTAGCAGAGTCAGGGCATGTTGGGACAGTCATCTGTCCATCAGATGACTCCCAGCTCTTCCTACGGTTTGCAGACTTCCCAGGTAAGAGCCTGGGATTGTGAGACTAGGGGGATGAGGCAAGCTGCTCTGCATACTCTCGGCCCTGATTCCCTCTCTCCTTCTTCCCTCCAGGGCTATACTCCTTATGTTTCTCATGTGGGATTGCAGCAACACACAGGCCCTGCAGGTACCATGGTGCCCCCCAGCTACTCCAGCCAGCCTTACCAGAGCACCCACCCTTCTACCAATCCTACTCTTGTAGATCCTACCCGCCACCTGCAACAGCGGCCCAGTGGCTATGTGCACCAGCAGGCCCCCACCTATGGACATGGACTGACCTCCACTCAAAGGTACCCAAAGTAGTGGTGAGCTAGGAAGAGATGCAGAGGTATAAGGGAGCATTTGACTTGGGAAAGCCTGTGCCTGAAAGTGGTGGGACTGGTCAGAACTTTCGGAGACATCAAGAATACTTATCTGGCCACATAGCCCATAACCACAGAAGTCTCGAGCTGGAAGGGACCCTGGAGACCAATAGTTTCATGACTACTTCCTTAACAGTTCTTTGAGGCCCAGAGAGGGGAAATTGTTTATCTGACTCAAGGAAAAATCTGGGCTGGGTGTGGTAGCTCACACTGGTAGTCCCAGCACTTGGGGGCCCAAGGTGGGAGAATCAGTTGATTCCAGGAATTCGAGGCCAGCCTGGGCAACATAGGGAGATCCCATCTCTACAAAAAAAATACATATTTTTTTGAAACAGAGTCGCACTCCATTTGCCCAGGCTGGAGTGTCGTGGCATGATCATGGCTCACTGCAGCCTCGACCTCTGAGGCTCAGGTGATCCTCCTACCTCAGCCTCCCAAGTAGCTAGAACTACAGGCACACACCACCACGCCC
Task1_train_30289
A genomic change on Chromosome X affects NLGN3 (neuroligin 3). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Autism, susceptibility to, X-linked 1
GGAAAGGTAGTTGGTTGAGATGGGCTGTTGGGGACAAGGAGGCGGGGCAAGGCGGTGCAGAGAGGCCAGCACAGCAGGGGCCTGCAACACCATCATCCTGATGAAGGTCTGGGCCTCAGCCCACCCATTCCCTCAGTTCTTGCCATCCCTCCTGCCTGTCCTGGGCCCAGGCCCGGAGCTGGCTTGCTGGGCCACACTGCAGTCATGCTGTTTTTGAATTCTCTCTCTGTTTTGTTCTCTGTTCTGTGCTGTTGTGTCTCCCCGTGTCTGGTCCCCAGGATCCGGCGCTAAGAAACAGGGCGAGGACTTAGCGGATAATGACGGGGATGAAGATGAAGGTATTTGGGGGCTGCAGGGCGCGGCGGCTGGTGCATGGCACAGAGCCCCTCCCCTTCTCGATGGGGAGAAGCCCCGTCTGTCTGTCTGTCTGTCCGTTGGTGTGTTTCTGTTCCTGTACAAGGCCGTTGGGCTGTTCATCTGTCTTTGGCCCTGTTGGCCACTGGGAGTTCCGGGGTGATGGACATGGCTGGCAGGAGCAGGGGACCACAAGCAGAGCCATGGGGAGGACATCCTCCTTGCCTGGGTCTCCCGCCCCTTCCCCATCTTCTGTGGTTCAGAGGCACCTGCCCCTACTGAGCAGCAGGGAGAGTGGAGAGAAAGCAGGACCACTGAGGGCGGGGAGAGGACAAAGACAACGGAACGGCAAGGAGATTACCTGTGTTTCAGTGAAGAGACCCCTGTGTCTCACAGGGAGCCTGGCTTCTGGGAGAGGGGCCCCGCAGGATGGTGAACTGGGAAGTGAGGCAGTGACAACCAAAGGGGCTGGAAAAGCAGCACCAGAACCTCCCCAGCCTTCTAGAAAAGAGAGAGATGGTCTCGGGGCTAGGGGCTGCAGTAGGTACAAGACAAGGCCAGAAAGACTGGGCTAAAATGCCAGGCTGAGGCCAGGACACCACAGCCATCAATAGATGGCATAAGATCCTTGGGCAATGATCGGACCAGCCTTCCTCCTTGGAGAAACAAGTTCTGTTTGCTCCGCAGCAGAGAGCATTCCCTTCCTCCTCCATGCCCTGGCCCTGCCCCTCTGCCCCGAAGGGGCCAGGCAGCTCAGGGGGGCCCAGTGGTGATGGGTAGGGCTGTGCTGGCATGGCAGAGAGTATTGGTCCAGTTCACGGACTGACAGGCTACAGGCAGAGGTGATCAGGCCTGGAGCCTTCTCTTGACTGCCCCAGCCCTGATGCCGTGCCGCCTGGGCTCGGGAGCAGCCGCTTGATGGTCCCTTGTTGAATGGCCTCTGGGGAGGCTCCATCTTCATCTTGGTGCTGACTGGGAGCAGGCTCTGTCATTCTTAGTTCTTCCCCATCCCCAATGCTTCTGGTTAAGTCTGCCCAGGGAGAATGGGGAAATGGGCACATGGCTAAGAAACCATGTCAACAAGGTTCCCCCCACCCTATCTCTGCCATTCACTCCCCTTTCCCACATCCTTCCTTGTTCTCTCCCTGTGCCACCCCTTATTCCCACACCTCTTGTCTCTGTCTGCACTGGGGGGCCAGCTGCTGCCAATGGCCGTTTTTCCATGTAACTGGTCTAGTCTTGGGGGTTTCAGGGCTCCCCAGCTCCTGCTCTCTAAAGCCATGTCAGGTCCCAGGACTCCTGGGTGCCCAGGGCAGCGACTCACTTGATGTGGCTAAAGGACCAGCCCTTCCTCTTTCTGCTGCCCCCCGCCCCCAGGGCCCAGCCATGGCCCACTGAGGCCTGGCTGTATCACATGCCTGGCTGCCTTCAGCTGGGAGGCACTTGAAACCAGAGCCTTTAAAAATATCACTGAAGCCCCACTGTCTCGGGCTGATGCTTGAGCTCCAGGTTGAGCAACCCCATGAGTCCTGCCCTCAGGGATGGCGGTGGTGTCCTGGCACCTGGGATAGCTTTGCTGCCCGCACCCACCCCCTGGGCTGGCAGGGGTGGGGGAGCAAGGGCATCCCACCCAGCCTGTGTCTCACCCCTTCTCCTTGCAGACATCCGGGACAGTGGTGCTAAACCCGTCATGGTCTACATCCACGGAGGCTCTTACATGGAAGGGACAGGCAACATGATTGATGGCAGCATCCTCGCCAGTTATGGCAATGTCATCGTCATCACCCTCAACTATCGGGTTGGAGTGCTAGGTATGGTTCCCTGCCTGGTGCCTGGAAGGAAGACTGGCTTCGCAAGGGGGGAGGAAAGAATGCTGGAGAATTTAAAAACAGATAGCCTTGCTTCTCTAGCTGGTGCTAATAACCACAGTCAAAATGGTGTTATCCTCTGGCCCCTACCCAAATGCTAGGGGCTTCCCCATATCCCCAGGCCCTTTCTTGGAAGGTTTAGATGCCACCAGAAATTCAATTCAAACTTCACACCTTCTCTCAGGTCCCAAGCCAGGTCTCTGCTTCCAGACTTTGACTTGGCTGAGTTTTGTAGGATGCTTCAATTTTCCACTGTCCTGTCTTCACCTCTACCCACCCGCCCCACATCTCTAAACACCCCACACATGCACAGATATTCCTTCCAGTCCACTCCATGGCCACACACCTATTTACCTTCATGTGTTTACACATCCACCCCGCCATGCACCTGCAGGAAGACGGTGATTTCTCACTCACCCCCATAAAGTACACACACCTAGCCCCACATTCACATCTCCAGGCCCCTCACATGTAAACACATTCTCCTAGCACTCCAGGTAACTCCATTCACATGGTCTCTCCAGAACACATATCCACATACCCACACGGTCTGTGTACTCCACGTCTGCACCCCGCAGATGGCTCTCACCCTCCGCATGTACACACACACATGCTCATATACTTCTCCCCATGTCTCTGTAGCCACATCTACACCGATACCCACGATGCATACACACCCACACTCACACTTTACCCCCATATTTACAGCCCACACAAAAACCTACACCCTGCACATCCATGTCCACACCAAACTCCACACATATACACCTTAAATGTACATAAATATTCCTTCCACCCACCCCCCACAAATACCTACACACGCCCGTATCCCCCTGCACACCCTACTTCCACATCCACTTTACACATCCACCTACCACACACACCTGTCCCTCACTATCTCCTCAGAAACACAAACAAATATTCCCCTTCCCTACACACATATACTCTTACCTGTTTGTCCACACTGTCCCACCCCACACATACACAGATACTACACACACACCATATCCACATCTATATACATCCCACACACTGCCCTTATGTCATTCCCCTACACATACATTCCCCCACACACACATCCACATATGCATGCACGCGTATACATGCGCACACTCTTCCATATACAGCCTGTATATGTACACCCAGCACACACCCATGCACTTCTCCCCTCACCCCACCCCACAAATATATACACATCCGTGTACATGGGGCTGCATCTGTATCCATACATGCACACACACCTCTACCCAGGCCCAACCGCATCCCCCAAGTCTCCCCACACTTCCTTACCCCGTATATGCACACGTACACACTCTTTGTACTCTAAGCATGTCCCCTGCACACTCCCACCCATCACACACATACTCCCATGCATATGCACTCATTGCCGAAATGCCTCCTCATATGCACCCATACACCTCCCCACCCCCGCATTCTCTGCTGTGCACAAGCTTGTGTCAGTCATTTAGGCTGCCCTTGAACCCTGTACCTTCCTTGGTGACCACCCATGCCTATCTATGGCCAAGGTCTTGAGGTAAACGAGTGCCTCAGAGAGGGTGACTAAGCACACAGGGCCCTGCTCATGCTCCCCCAAGCCCCGCATCCCTGTAGTGGCATGAAGAAGCCAACTTCTTCCTGGAGGAAGAGTTTCAGCGGGAGTGTAGGCTCTTGGTCAGGTCTGTAGGCATATGGGTGCTAAACCAGCAGTTAGGCGTGGCTTATTCCATGGCTAACTAGGGGACACGACCATATTTGATTTTATTTTCATTTAATTTTTGAGACAGGGTCTCACTCTTGCCCAGGCCAGTTTTGAACTCCTGAGCTCAAGTGATCATCCTCCCACCTCAAGGGCCTTATTTTAATTTGCTTATTTA
GGAAAGGTAGTTGGTTGAGATGGGCTGTTGGGGACAAGGAGGCGGGGCAAGGCGGTGCAGAGAGGCCAGCACAGCAGGGGCCTGCAACACCATCATCCTGATGAAGGTCTGGGCCTCAGCCCACCCATTCCCTCAGTTCTTGCCATCCCTCCTGCCTGTCCTGGGCCCAGGCCCGGAGCTGGCTTGCTGGGCCACACTGCAGTCATGCTGTTTTTGAATTCTCTCTCTGTTTTGTTCTCTGTTCTGTGCTGTTGTGTCTCCCCGTGTCTGGTCCCCAGGATCCGGCGCTAAGAAACAGGGCGAGGACTTAGCGGATAATGACGGGGATGAAGATGAAGGTATTTGGGGGCTGCAGGGCGCGGCGGCTGGTGCATGGCACAGAGCCCCTCCCCTTCTCGATGGGGAGAAGCCCCGTCTGTCTGTCTGTCTGTCCGTTGGTGTGTTTCTGTTCCTGTACAAGGCCGTTGGGCTGTTCATCTGTCTTTGGCCCTGTTGGCCACTGGGAGTTCCGGGGTGATGGACATGGCTGGCAGGAGCAGGGGACCACAAGCAGAGCCATGGGGAGGACATCCTCCTTGCCTGGGTCTCCCGCCCCTTCCCCATCTTCTGTGGTTCAGAGGCACCTGCCCCTACTGAGCAGCAGGGAGAGTGGAGAGAAAGCAGGACCACTGAGGGCGGGGAGAGGACAAAGACAACGGAACGGCAAGGAGATTACCTGTGTTTCAGTGAAGAGACCCCTGTGTCTCACAGGGAGCCTGGCTTCTGGGAGAGGGGCCCCGCAGGATGGTGAACTGGGAAGTGAGGCAGTGACAACCAAAGGGGCTGGAAAAGCAGCACCAGAACCTCCCCAGCCTTCTAGAAAAGAGAGAGATGGTCTCGGGGCTAGGGGCTGCAGTAGGTACAAGACAAGGCCAGAAAGACTGGGCTAAAATGCCAGGCTGAGGCCAGGACACCACAGCCATCAATAGATGGCATAAGATCCTTGGGCAATGATCGGACCAGCCTTCCTCCTTGGAGAAACAAGTTCTGTTTGCTCCGCAGCAGAGAGCATTCCCTTCCTCCTCCATGCCCTGGCCCTGCCCCTCTGCCCCGAAGGGGCCAGGCAGCTCAGGGGGGCCCAGTGGTGATGGGTAGGGCTGTGCTGGCATGGCAGAGAGTATTGGTCCAGTTCACGGACTGACAGGCTACAGGCAGAGGTGATCAGGCCTGGAGCCTTCTCTTGACTGCCCCAGCCCTGATGCCGTGCCGCCTGGGCTCGGGAGCAGCCGCTTGATGGTCCCTTGTTGAATGGCCTCTGGGGAGGCTCCATCTTCATCTTGGTGCTGACTGGGAGCAGGCTCTGTCATTCTTAGTTCTTCCCCATCCCCAATGCTTCTGGTTAAGTCTGCCCAGGGAGAATGGGGAAATGGGCACATGGCTAAGAAACCATGTCAACAAGGTTCCCCCCACCCTATCTCTGCCATTCACTCCCCTTTCCCACATCCTTCCTTGTTCTCTCCCTGTGCCACCCCTTATTCCCACACCTCTTGTCTCTGTCTGCACTGGGGGGCCAGCTGCTGCCAATGGCCGTTTTTCCATGTAACTGGTCTAGTCTTGGGGGTTTCAGGGCTCCCCAGCTCCTGCTCTCTAAAGCCATGTCAGGTCCCAGGACTCCTGGGTGCCCAGGGCAGCGACTCACTTGATGTGGCTAAAGGACCAGCCCTTCCTCTTTCTGCTGCCCCCCGCCCCCAGGGCCCAGCCATGGCCCACTGAGGCCTGGCTGTATCACATGCCTGGCTGCCTTCAGCTGGGAGGCACTTGAAACCAGAGCCTTTAAAAATATCACTGAAGCCCCACTGTCTCGGGCTGATGCTTGAGCTCCAGGTTGAGCAACCCCATGAGTCCTGCCCTCAGGGATGGCGGTGGTGTCCTGGCACCTGGGATAGCTTTGCTGCCCGCACCCACCCCCTGGGCTGGCAGGGGTGGGGGAGCAAGGGCATCCCACCCAGCCTGTGTCTCACCCCTTCTCCTTGCAGACATCCGGGACAGTGGTGCTAAACCCGTCATGGCCTACATCCACGGAGGCTCTTACATGGAAGGGACAGGCAACATGATTGATGGCAGCATCCTCGCCAGTTATGGCAATGTCATCGTCATCACCCTCAACTATCGGGTTGGAGTGCTAGGTATGGTTCCCTGCCTGGTGCCTGGAAGGAAGACTGGCTTCGCAAGGGGGGAGGAAAGAATGCTGGAGAATTTAAAAACAGATAGCCTTGCTTCTCTAGCTGGTGCTAATAACCACAGTCAAAATGGTGTTATCCTCTGGCCCCTACCCAAATGCTAGGGGCTTCCCCATATCCCCAGGCCCTTTCTTGGAAGGTTTAGATGCCACCAGAAATTCAATTCAAACTTCACACCTTCTCTCAGGTCCCAAGCCAGGTCTCTGCTTCCAGACTTTGACTTGGCTGAGTTTTGTAGGATGCTTCAATTTTCCACTGTCCTGTCTTCACCTCTACCCACCCGCCCCACATCTCTAAACACCCCACACATGCACAGATATTCCTTCCAGTCCACTCCATGGCCACACACCTATTTACCTTCATGTGTTTACACATCCACCCCGCCATGCACCTGCAGGAAGACGGTGATTTCTCACTCACCCCCATAAAGTACACACACCTAGCCCCACATTCACATCTCCAGGCCCCTCACATGTAAACACATTCTCCTAGCACTCCAGGTAACTCCATTCACATGGTCTCTCCAGAACACATATCCACATACCCACACGGTCTGTGTACTCCACGTCTGCACCCCGCAGATGGCTCTCACCCTCCGCATGTACACACACACATGCTCATATACTTCTCCCCATGTCTCTGTAGCCACATCTACACCGATACCCACGATGCATACACACCCACACTCACACTTTACCCCCATATTTACAGCCCACACAAAAACCTACACCCTGCACATCCATGTCCACACCAAACTCCACACATATACACCTTAAATGTACATAAATATTCCTTCCACCCACCCCCCACAAATACCTACACACGCCCGTATCCCCCTGCACACCCTACTTCCACATCCACTTTACACATCCACCTACCACACACACCTGTCCCTCACTATCTCCTCAGAAACACAAACAAATATTCCCCTTCCCTACACACATATACTCTTACCTGTTTGTCCACACTGTCCCACCCCACACATACACAGATACTACACACACACCATATCCACATCTATATACATCCCACACACTGCCCTTATGTCATTCCCCTACACATACATTCCCCCACACACACATCCACATATGCATGCACGCGTATACATGCGCACACTCTTCCATATACAGCCTGTATATGTACACCCAGCACACACCCATGCACTTCTCCCCTCACCCCACCCCACAAATATATACACATCCGTGTACATGGGGCTGCATCTGTATCCATACATGCACACACACCTCTACCCAGGCCCAACCGCATCCCCCAAGTCTCCCCACACTTCCTTACCCCGTATATGCACACGTACACACTCTTTGTACTCTAAGCATGTCCCCTGCACACTCCCACCCATCACACACATACTCCCATGCATATGCACTCATTGCCGAAATGCCTCCTCATATGCACCCATACACCTCCCCACCCCCGCATTCTCTGCTGTGCACAAGCTTGTGTCAGTCATTTAGGCTGCCCTTGAACCCTGTACCTTCCTTGGTGACCACCCATGCCTATCTATGGCCAAGGTCTTGAGGTAAACGAGTGCCTCAGAGAGGGTGACTAAGCACACAGGGCCCTGCTCATGCTCCCCCAAGCCCCGCATCCCTGTAGTGGCATGAAGAAGCCAACTTCTTCCTGGAGGAAGAGTTTCAGCGGGAGTGTAGGCTCTTGGTCAGGTCTGTAGGCATATGGGTGCTAAACCAGCAGTTAGGCGTGGCTTATTCCATGGCTAACTAGGGGACACGACCATATTTGATTTTATTTTCATTTAATTTTTGAGACAGGGTCTCACTCTTGCCCAGGCCAGTTTTGAACTCCTGAGCTCAAGTGATCATCCTCCCACCTCAAGGGCCTTATTTTAATTTGCTTATTTA
Task1_train_30290
Consider a variant on Chromosome X in gene NLGN3 (neuroligin 3). Determine its clinical classification and disease relevance.
Pathogenic; Intellectual disability
AGAGTAGCTGGGGACTACAGGTGCATGCTACCATGCCCGGCTAATTTTGGGGATAAATTTTTTTTTGTAGAGACAGGTTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCGATCTGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCGAGGTTTGACTTCTTTAAAGATCTGTTCTCTCTGTTTTTCTGTAATTGATGCATGGAGAATAATCTTTGGGAAAATGAGGCTGTCTTTTAAGTAGTAATCTATCATTTCTTTCCCTCTCTTTCCACTCATGCAAACTGGCTTTCTCTTAAAGGAATGGAATTATGTGCCTGAGGGACAAATTCTCCCTTGGGAATGTTGGGGCCAGGGAGAGAATGATATCCTTTTTTTTTTTCTAGAGGGGAAAATTATTTTCTTTTTGAGTTTGGGGGACTGGCTCCCTCTCTGCTAGGGGAAAATCTGAATTTGAAGTATCGGTAGCTTCAGATAAAAGGAAAGTCTCTGCCAGGCGCGGTGGCTCACGCCTGTAACCCCAGTACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTCGGAAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAAACGCTTGAACCTGGGAGGCAGAGGTTGCAGTTAGCCGAGATCCCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAACAAAGTATCAGTGGAGACCACAGACGGGGAGCACAGGTTCCCTGGAGACTTTCAGACCCGAAGGCCTTTGCCCTTGGGCTCCTTCCCCAAGCCCTCAGAATGTGGGGCTCTTGCCTGCCTGCATTTCTCATCTCTCATGAAAAAGACTCCTTTGTGGTGCAAGTGCCAGCTCCCTGGTGGTGCGCTGGCACGGAGCTGGGCCCAGCTGGGCAGGAAGCAAGAGGGGAAGACAAGGAGAGATAAAGAGAGGCGGCATAAGGGGGCTGATGTCTGGGATTCAAGGGGTTAATTCTTCCTGACATTGCCTTAACCCCTAAGTTACCAGCCATCGCACCAGGACAGGGAAGGGATGGTGGAAGCCATCAAGGAAGGGGTTCAGCAACCCCTCCTTTGGCCCTACATCATCCCCTGCCAAAAGAGTTGTTCCCCCTTCCTAGCCCATTTAAACCATGGGGCAGCCTCAGTGACAAAGGAATGAAGAGATTTATGGCTATGTGTGACACGACAGATCTGACCTGGTGCTACCTGTCTTCTGTAGGACTTTTCCAGAGAGCCATCATCCAAAGTGGCTCTGCTCTGTCCAGCTGGGCTGTGAACTACCAACCAGTGAAGTACACCAGCCTGCTGGCAGACAAAGTGGGCTGTAATGTGCTGGACACCGTGGATATGGTGGACTGTCTTCGGCAAAAGAGTGCCAAGGAGCTGGTAGAGCAGGACATCCAGCCAGCCCGCTACCACGTGGCCTTTGGCCCTGTGATTGATGGTGATGTCATTCCTGATGACCCTGAGATCCTCATGGAGCAGGGCGAGTTCCTCAACTATGACATCATGCTAGGTGTCAACCAGGGCGAGGGTCTCAAGTTTGTGGAAGGGGTGGTGGACCCTGAGGATGGTGTCTCTGGCACTGACTTTGACTATTCCGTCTCCAATTTTGTGGACAATCTGTATGGCTATCCTGAGGGTAAGGACACCCTGCGAGAGACCATCAAGTTCATGTATACAGACTGGGCAGACCGTGACAACCCTGAGACCCGCCGTAAAACACTGGTGGCACTCTTCACTGACCACCAGTGGGTGGAGCCCTCAGTGGTGACAGCCGATCTGCATGCCCGCTACGGCTCGCCTACCTACTTCTACGCCTTCTATCATCACTGCCAGAGCCTCATGAAGCCTGCTTGGTCAGATGCAGCTCATGGGGATGAAGTACCCTATGTTTTTGGGGTTCCTATGGTAGGCCCCACTGACCTTTTCCCCTGCAACTTCTCCAAGAATGATGTTATGCTCAGTGCTGTCGTCATGACCTATTGGACCAACTTTGCCAAGACTGGGTAAGGAGAAAATAGGGTTTTTTTCCTCTTTGAGACCCCAGCATGCCCTCCCCTCTGCTCCTCTAGCTAAACCTCTTCCATCATATCCCTTCCTAAGATATTCCCAAAATCTTGCTTGGTACCCCTTCACTCATCTTCCTATCTCCCCTTCCTGAGTCTTTCATGCCATTTTTCCTTCCTTCAAAAATGTTGTTGAGGCTTAGAACTCAGTTAGCATCGGGACTAGGAAGGAATGAGGGTTACTGGAAGAACTATGGGATTTAGCCAGGCCCAGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCAAAGGCAGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCACGGCAACATAGAAAGACCCTGTCTCTAAAAGAAAAAGCATTAGCCAGGCATGGTAGTGCATGCCTGTAGTCCCAGGTATTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCCGGAGGGTGAGGCTACACTGAGCTGTGATCACGCCACTGTACTCTAGCCTGGGTGACAGAGCGAAACCTTATCTTAAACACACACACACACACACATATACACACACACACTATGGGATTCAAGGTTAGCTGGTCACAGGCTATGTGAAATAGGAATGCAGTGCTTCAGAAAGAGCCTTCAGGGCCAGGCGCGGAGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACACCGTCTCTACTATAATACAAAAAATTTGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCGGCTACCTAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGGTTGCCCCACCGCACTCCAGCCTGTGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAAAAGAGAGAAAGAAAGAGAGAGAGAGAAAGAAAAAGGGAAGAAAGAAAGAAAGAGAGAGAAAGAAAGAAAGAGAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAAGAAAGAGAAAGAAAGAAAGAAAGAAAAAGAGACTTCGGGTTCAGCAACTTCTGCTTGCTTAATAAAAGAAAGAGGCTTTATTAGGGGGCTCCTGGCAAAATTGGGCAGCTGAAAAGATTGATAAATGCTCAGTAGCATGTGCAAAGAAAAAGCATCTATAGCCTTAATCTTAAAGGATGAGCGCCGGGAAGGAGGATATAGGAGTTCAAGCCCTGGGGAAGAAGCAGGTGTGGGCAGAGCAGGGGACCCTGAAAAAGATGGAAATGGTGGGAAGTTCTAAACTGGGAAAGAGGTTTGGCTGTCAGAGGAAAAATGCTGGGCCTTTTCCTCATCCAGATAGAGTGGTGACCCCAGATTTCCATGTGGTATTTCAGGGATCCCAACAAGCCGGTCCCCCAGGACACCAAGTTCATTCACACCAAGGCCAACCGCTTTGAGGAAGTGGCCTGGTCCAAATACAATCCCCGAGACCAGCTCTACCTTCACATCGGGCTGAAACCAAGGGTCCGAGATCATTACCGGGCCACTAAGGTGGCCTTTTGGAAACATCTGGTGCCCCACCTATACAACCTGCATGACATGTTCCACTATACGTCCACCACCACCAAAGTGCCGCCTCCGGATACCACCCACAGCTCCCACATCACCCGCAGGCCCAATGGCAAGACCTGGAGCACCAAGCGGCCAGCCATCTCACCTGCCTACAGCAACGAGAATGCCCAGGGGTCCTGGAACGGGGACCAGGATGCAGGGCCACTCCTGGTGGAGAACCCTCGTGACTACTCCACTGAATTAAGTGTCACCATCGCCGTGGGGGCCTCCCTCCTGTTCCTTAACGTTCTGGCCTTCGCTGCCCTCTACTACC
AGAGTAGCTGGGGACTACAGGTGCATGCTACCATGCCCGGCTAATTTTGGGGATAAATTTTTTTTTGTAGAGACAGGTTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCGATCTGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCGAGGTTTGACTTCTTTAAAGATCTGTTCTCTCTGTTTTTCTGTAATTGATGCATGGAGAATAATCTTTGGGAAAATGAGGCTGTCTTTTAAGTAGTAATCTATCATTTCTTTCCCTCTCTTTCCACTCATGCAAACTGGCTTTCTCTTAAAGGAATGGAATTATGTGCCTGAGGGACAAATTCTCCCTTGGGAATGTTGGGGCCAGGGAGAGAATGATATCCTTTTTTTTTTTCTAGAGGGGAAAATTATTTTCTTTTTGAGTTTGGGGGACTGGCTCCCTCTCTGCTAGGGGAAAATCTGAATTTGAAGTATCGGTAGCTTCAGATAAAAGGAAAGTCTCTGCCAGGCGCGGTGGCTCACGCCTGTAACCCCAGTACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTCGGAAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAAACGCTTGAACCTGGGAGGCAGAGGTTGCAGTTAGCCGAGATCCCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAACAAAGTATCAGTGGAGACCACAGACGGGGAGCACAGGTTCCCTGGAGACTTTCAGACCCGAAGGCCTTTGCCCTTGGGCTCCTTCCCCAAGCCCTCAGAATGTGGGGCTCTTGCCTGCCTGCATTTCTCATCTCTCATGAAAAAGACTCCTTTGTGGTGCAAGTGCCAGCTCCCTGGTGGTGCGCTGGCACGGAGCTGGGCCCAGCTGGGCAGGAAGCAAGAGGGGAAGACAAGGAGAGATAAAGAGAGGCGGCATAAGGGGGCTGATGTCTGGGATTCAAGGGGTTAATTCTTCCTGACATTGCCTTAACCCCTAAGTTACCAGCCATCGCACCAGGACAGGGAAGGGATGGTGGAAGCCATCAAGGAAGGGGTTCAGCAACCCCTCCTTTGGCCCTACATCATCCCCTGCCAAAAGAGTTGTTCCCCCTTCCTAGCCCATTTAAACCATGGGGCAGCCTCAGTGACAAAGGAATGAAGAGATTTATGGCTATGTGTGACACGACAGATCTGACCTGGTGCTACCTGTCTTCTGTAGGACTTTTCCAGAGAGCCATCATCCAAAGTGGCTCTGCTCTGTCCAGCTGGGCTGTGAACTACCAACCAGTGAAGTACACCAGCCTGCTGGCAGACAAAGTGGGCTGTAATGTGCTGGACACCGTGGATATGGTGGACTGTCTTCGGCAAAAGAGTGCCAAGGAGCTGGTAGAGCAGGACATCCAGCCAGCCCGCTACCACGTGGCCTTTGGCCCTGTGATTGATGGTGATGTCATTCCTGATGACCCTGAGATCCTCATGGAGCAGGGCGAGTTCCTCAACTATGACATCATGCTAGGTGTCAACCAGGGCGAGGGTCTCAAGTTTGTGGAAGGGGTGGTGGACCCTGAGGATGGTGTCTCTGGCACTGACTTTGACTATTCCGTCTCCAATTTTGTGGACAATCTGTATGGCTATCCTGAGGGTAAGGACACCCTGCGAGAGACCATCAAGTTCATGTATACAGACTGGGCAGACCGTGACAACCCTGAGACCCGCCGTAAAACACTGGTGGCACTCTTCACTGACCACCAGTGGGTGGAGCCCTCAGTGGTGACAGCCGATCTGCATGCCCGCTACGGCTCGCCTACCTACTTCTACGCCTTCTATCATCACTGCCAGAGCCTCATGAAGCCTGCTTGGTCAGATGCAGCTCATGGGGATGAAGTACCCTATGTTTTTGGGGTTTCTATGGTAGGCCCCACTGACCTTTTCCCCTGCAACTTCTCCAAGAATGATGTTATGCTCAGTGCTGTCGTCATGACCTATTGGACCAACTTTGCCAAGACTGGGTAAGGAGAAAATAGGGTTTTTTTCCTCTTTGAGACCCCAGCATGCCCTCCCCTCTGCTCCTCTAGCTAAACCTCTTCCATCATATCCCTTCCTAAGATATTCCCAAAATCTTGCTTGGTACCCCTTCACTCATCTTCCTATCTCCCCTTCCTGAGTCTTTCATGCCATTTTTCCTTCCTTCAAAAATGTTGTTGAGGCTTAGAACTCAGTTAGCATCGGGACTAGGAAGGAATGAGGGTTACTGGAAGAACTATGGGATTTAGCCAGGCCCAGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCAAAGGCAGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCACGGCAACATAGAAAGACCCTGTCTCTAAAAGAAAAAGCATTAGCCAGGCATGGTAGTGCATGCCTGTAGTCCCAGGTATTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCCGGAGGGTGAGGCTACACTGAGCTGTGATCACGCCACTGTACTCTAGCCTGGGTGACAGAGCGAAACCTTATCTTAAACACACACACACACACACATATACACACACACACTATGGGATTCAAGGTTAGCTGGTCACAGGCTATGTGAAATAGGAATGCAGTGCTTCAGAAAGAGCCTTCAGGGCCAGGCGCGGAGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACACCGTCTCTACTATAATACAAAAAATTTGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCGGCTACCTAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGGTTGCCCCACCGCACTCCAGCCTGTGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAAAAGAGAGAAAGAAAGAGAGAGAGAGAAAGAAAAAGGGAAGAAAGAAAGAAAGAGAGAGAAAGAAAGAAAGAGAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAAGAAAGAGAAAGAAAGAAAGAAAGAAAAAGAGACTTCGGGTTCAGCAACTTCTGCTTGCTTAATAAAAGAAAGAGGCTTTATTAGGGGGCTCCTGGCAAAATTGGGCAGCTGAAAAGATTGATAAATGCTCAGTAGCATGTGCAAAGAAAAAGCATCTATAGCCTTAATCTTAAAGGATGAGCGCCGGGAAGGAGGATATAGGAGTTCAAGCCCTGGGGAAGAAGCAGGTGTGGGCAGAGCAGGGGACCCTGAAAAAGATGGAAATGGTGGGAAGTTCTAAACTGGGAAAGAGGTTTGGCTGTCAGAGGAAAAATGCTGGGCCTTTTCCTCATCCAGATAGAGTGGTGACCCCAGATTTCCATGTGGTATTTCAGGGATCCCAACAAGCCGGTCCCCCAGGACACCAAGTTCATTCACACCAAGGCCAACCGCTTTGAGGAAGTGGCCTGGTCCAAATACAATCCCCGAGACCAGCTCTACCTTCACATCGGGCTGAAACCAAGGGTCCGAGATCATTACCGGGCCACTAAGGTGGCCTTTTGGAAACATCTGGTGCCCCACCTATACAACCTGCATGACATGTTCCACTATACGTCCACCACCACCAAAGTGCCGCCTCCGGATACCACCCACAGCTCCCACATCACCCGCAGGCCCAATGGCAAGACCTGGAGCACCAAGCGGCCAGCCATCTCACCTGCCTACAGCAACGAGAATGCCCAGGGGTCCTGGAACGGGGACCAGGATGCAGGGCCACTCCTGGTGGAGAACCCTCGTGACTACTCCACTGAATTAAGTGTCACCATCGCCGTGGGGGCCTCCCTCCTGTTCCTTAACGTTCTGGCCTTCGCTGCCCTCTACTACC
Task1_train_30291
With a mutation on Chromosome X in gene NLGN3 (neuroligin 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Autistic behavior
AGAGTAGCTGGGGACTACAGGTGCATGCTACCATGCCCGGCTAATTTTGGGGATAAATTTTTTTTTGTAGAGACAGGTTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCGATCTGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCGAGGTTTGACTTCTTTAAAGATCTGTTCTCTCTGTTTTTCTGTAATTGATGCATGGAGAATAATCTTTGGGAAAATGAGGCTGTCTTTTAAGTAGTAATCTATCATTTCTTTCCCTCTCTTTCCACTCATGCAAACTGGCTTTCTCTTAAAGGAATGGAATTATGTGCCTGAGGGACAAATTCTCCCTTGGGAATGTTGGGGCCAGGGAGAGAATGATATCCTTTTTTTTTTTCTAGAGGGGAAAATTATTTTCTTTTTGAGTTTGGGGGACTGGCTCCCTCTCTGCTAGGGGAAAATCTGAATTTGAAGTATCGGTAGCTTCAGATAAAAGGAAAGTCTCTGCCAGGCGCGGTGGCTCACGCCTGTAACCCCAGTACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTCGGAAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAAACGCTTGAACCTGGGAGGCAGAGGTTGCAGTTAGCCGAGATCCCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAACAAAGTATCAGTGGAGACCACAGACGGGGAGCACAGGTTCCCTGGAGACTTTCAGACCCGAAGGCCTTTGCCCTTGGGCTCCTTCCCCAAGCCCTCAGAATGTGGGGCTCTTGCCTGCCTGCATTTCTCATCTCTCATGAAAAAGACTCCTTTGTGGTGCAAGTGCCAGCTCCCTGGTGGTGCGCTGGCACGGAGCTGGGCCCAGCTGGGCAGGAAGCAAGAGGGGAAGACAAGGAGAGATAAAGAGAGGCGGCATAAGGGGGCTGATGTCTGGGATTCAAGGGGTTAATTCTTCCTGACATTGCCTTAACCCCTAAGTTACCAGCCATCGCACCAGGACAGGGAAGGGATGGTGGAAGCCATCAAGGAAGGGGTTCAGCAACCCCTCCTTTGGCCCTACATCATCCCCTGCCAAAAGAGTTGTTCCCCCTTCCTAGCCCATTTAAACCATGGGGCAGCCTCAGTGACAAAGGAATGAAGAGATTTATGGCTATGTGTGACACGACAGATCTGACCTGGTGCTACCTGTCTTCTGTAGGACTTTTCCAGAGAGCCATCATCCAAAGTGGCTCTGCTCTGTCCAGCTGGGCTGTGAACTACCAACCAGTGAAGTACACCAGCCTGCTGGCAGACAAAGTGGGCTGTAATGTGCTGGACACCGTGGATATGGTGGACTGTCTTCGGCAAAAGAGTGCCAAGGAGCTGGTAGAGCAGGACATCCAGCCAGCCCGCTACCACGTGGCCTTTGGCCCTGTGATTGATGGTGATGTCATTCCTGATGACCCTGAGATCCTCATGGAGCAGGGCGAGTTCCTCAACTATGACATCATGCTAGGTGTCAACCAGGGCGAGGGTCTCAAGTTTGTGGAAGGGGTGGTGGACCCTGAGGATGGTGTCTCTGGCACTGACTTTGACTATTCCGTCTCCAATTTTGTGGACAATCTGTATGGCTATCCTGAGGGTAAGGACACCCTGCGAGAGACCATCAAGTTCATGTATACAGACTGGGCAGACCGTGACAACCCTGAGACCCGCCGTAAAACACTGGTGGCACTCTTCACTGACCACCAGTGGGTGGAGCCCTCAGTGGTGACAGCCGATCTGCATGCCCGCTACGGCTCGCCTACCTACTTCTACGCCTTCTATCATCACTGCCAGAGCCTCATGAAGCCTGCTTGGTCAGATGCAGCTCATGGGGATGAAGTACCCTATGTTTTTGGGGTTCCTATGGTAGGCCCCACTGACCTTTTCCCCTGCAACTTCTCCAAGAATGATGTTATGCTCAGTGCTGTCGTCATGACCTATTGGACCAACTTTGCCAAGACTGGGTAAGGAGAAAATAGGGTTTTTTTCCTCTTTGAGACCCCAGCATGCCCTCCCCTCTGCTCCTCTAGCTAAACCTCTTCCATCATATCCCTTCCTAAGATATTCCCAAAATCTTGCTTGGTACCCCTTCACTCATCTTCCTATCTCCCCTTCCTGAGTCTTTCATGCCATTTTTCCTTCCTTCAAAAATGTTGTTGAGGCTTAGAACTCAGTTAGCATCGGGACTAGGAAGGAATGAGGGTTACTGGAAGAACTATGGGATTTAGCCAGGCCCAGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCAAAGGCAGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCACGGCAACATAGAAAGACCCTGTCTCTAAAAGAAAAAGCATTAGCCAGGCATGGTAGTGCATGCCTGTAGTCCCAGGTATTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCCGGAGGGTGAGGCTACACTGAGCTGTGATCACGCCACTGTACTCTAGCCTGGGTGACAGAGCGAAACCTTATCTTAAACACACACACACACACACATATACACACACACACTATGGGATTCAAGGTTAGCTGGTCACAGGCTATGTGAAATAGGAATGCAGTGCTTCAGAAAGAGCCTTCAGGGCCAGGCGCGGAGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACACCGTCTCTACTATAATACAAAAAATTTGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCGGCTACCTAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGGTTGCCCCACCGCACTCCAGCCTGTGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAAAAGAGAGAAAGAAAGAGAGAGAGAGAAAGAAAAAGGGAAGAAAGAAAGAAAGAGAGAGAAAGAAAGAAAGAGAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAAGAAAGAGAAAGAAAGAAAGAAAGAAAAAGAGACTTCGGGTTCAGCAACTTCTGCTTGCTTAATAAAAGAAAGAGGCTTTATTAGGGGGCTCCTGGCAAAATTGGGCAGCTGAAAAGATTGATAAATGCTCAGTAGCATGTGCAAAGAAAAAGCATCTATAGCCTTAATCTTAAAGGATGAGCGCCGGGAAGGAGGATATAGGAGTTCAAGCCCTGGGGAAGAAGCAGGTGTGGGCAGAGCAGGGGACCCTGAAAAAGATGGAAATGGTGGGAAGTTCTAAACTGGGAAAGAGGTTTGGCTGTCAGAGGAAAAATGCTGGGCCTTTTCCTCATCCAGATAGAGTGGTGACCCCAGATTTCCATGTGGTATTTCAGGGATCCCAACAAGCCGGTCCCCCAGGACACCAAGTTCATTCACACCAAGGCCAACCGCTTTGAGGAAGTGGCCTGGTCCAAATACAATCCCCGAGACCAGCTCTACCTTCACATCGGGCTGAAACCAAGGGTCCGAGATCATTACCGGGCCACTAAGGTGGCCTTTTGGAAACATCTGGTGCCCCACCTATACAACCTGCATGACATGTTCCACTATACGTCCACCACCACCAAAGTGCCGCCTCCGGATACCACCCACAGCTCCCACATCACCCGCAGGCCCAATGGCAAGACCTGGAGCACCAAGCGGCCAGCCATCTCACCTGCCTACAGCAACGAGAATGCCCAGGGGTCCTGGAACGGGGACCAGGATGCAGGGCCACTCCTGGTGGAGAACCCTCGTGACTACTCCACTGAATTAAGTGTCACCATCGCCGTGGGGGCCTCCCTCCTGTTCCTTAACGTTCTGGCCTTCGCTGCCCTCTACTACC
AGAGTAGCTGGGGACTACAGGTGCATGCTACCATGCCCGGCTAATTTTGGGGATAAATTTTTTTTTGTAGAGACAGGTTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCGATCTGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCGAGGTTTGACTTCTTTAAAGATCTGTTCTCTCTGTTTTTCTGTAATTGATGCATGGAGAATAATCTTTGGGAAAATGAGGCTGTCTTTTAAGTAGTAATCTATCATTTCTTTCCCTCTCTTTCCACTCATGCAAACTGGCTTTCTCTTAAAGGAATGGAATTATGTGCCTGAGGGACAAATTCTCCCTTGGGAATGTTGGGGCCAGGGAGAGAATGATATCCTTTTTTTTTTTCTAGAGGGGAAAATTATTTTCTTTTTGAGTTTGGGGGACTGGCTCCCTCTCTGCTAGGGGAAAATCTGAATTTGAAGTATCGGTAGCTTCAGATAAAAGGAAAGTCTCTGCCAGGCGCGGTGGCTCACGCCTGTAACCCCAGTACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTCGGAAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAAACGCTTGAACCTGGGAGGCAGAGGTTGCAGTTAGCCGAGATCCCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAACAAAGTATCAGTGGAGACCACAGACGGGGAGCACAGGTTCCCTGGAGACTTTCAGACCCGAAGGCCTTTGCCCTTGGGCTCCTTCCCCAAGCCCTCAGAATGTGGGGCTCTTGCCTGCCTGCATTTCTCATCTCTCATGAAAAAGACTCCTTTGTGGTGCAAGTGCCAGCTCCCTGGTGGTGCGCTGGCACGGAGCTGGGCCCAGCTGGGCAGGAAGCAAGAGGGGAAGACAAGGAGAGATAAAGAGAGGCGGCATAAGGGGGCTGATGTCTGGGATTCAAGGGGTTAATTCTTCCTGACATTGCCTTAACCCCTAAGTTACCAGCCATCGCACCAGGACAGGGAAGGGATGGTGGAAGCCATCAAGGAAGGGGTTCAGCAACCCCTCCTTTGGCCCTACATCATCCCCTGCCAAAAGAGTTGTTCCCCCTTCCTAGCCCATTTAAACCATGGGGCAGCCTCAGTGACAAAGGAATGAAGAGATTTATGGCTATGTGTGACACGACAGATCTGACCTGGTGCTACCTGTCTTCTGTAGGACTTTTCCAGAGAGCCATCATCCAAAGTGGCTCTGCTCTGTCCAGCTGGGCTGTGAACTACCAACCAGTGAAGTACACCAGCCTGCTGGCAGACAAAGTGGGCTGTAATGTGCTGGACACCGTGGATATGGTGGACTGTCTTCGGCAAAAGAGTGCCAAGGAGCTGGTAGAGCAGGACATCCAGCCAGCCCGCTACCACGTGGCCTTTGGCCCTGTGATTGATGGTGATGTCATTCCTGATGACCCTGAGATCCTCATGGAGCAGGGCGAGTTCCTCAACTATGACATCATGCTAGGTGTCAACCAGGGCGAGGGTCTCAAGTTTGTGGAAGGGGTGGTGGACCCTGAGGATGGTGTCTCTGGCACTGACTTTGACTATTCCGTCTCCAATTTTGTGGACAATCTGTATGGCTATCCTGAGGGTAAGGACACCCTGCGAGAGACCATCAAGTTCATGTATACAGACTGGGCAGACCGTGACAACCCTGAGACCCGCCGTAAAACACTGGTGGCACTCTTCACTGACCACCAGTGGGTGGAGCCCTCAGTGGTGACAGCCGATCTGCATGCCCGCTACGGCTCGCCTACCTACTTCTACGCCTTCTATCATCACTGCCAGAGCCTCATGAAGCCTGCTTGGTCAGATGCAGCTCATGGGGATGAAGTACCCTATGTTTTTGGGGTTTCTATGGTAGGCCCCACTGACCTTTTCCCCTGCAACTTCTCCAAGAATGATGTTATGCTCAGTGCTGTCGTCATGACCTATTGGACCAACTTTGCCAAGACTGGGTAAGGAGAAAATAGGGTTTTTTTCCTCTTTGAGACCCCAGCATGCCCTCCCCTCTGCTCCTCTAGCTAAACCTCTTCCATCATATCCCTTCCTAAGATATTCCCAAAATCTTGCTTGGTACCCCTTCACTCATCTTCCTATCTCCCCTTCCTGAGTCTTTCATGCCATTTTTCCTTCCTTCAAAAATGTTGTTGAGGCTTAGAACTCAGTTAGCATCGGGACTAGGAAGGAATGAGGGTTACTGGAAGAACTATGGGATTTAGCCAGGCCCAGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCAAAGGCAGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCACGGCAACATAGAAAGACCCTGTCTCTAAAAGAAAAAGCATTAGCCAGGCATGGTAGTGCATGCCTGTAGTCCCAGGTATTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCCGGAGGGTGAGGCTACACTGAGCTGTGATCACGCCACTGTACTCTAGCCTGGGTGACAGAGCGAAACCTTATCTTAAACACACACACACACACACATATACACACACACACTATGGGATTCAAGGTTAGCTGGTCACAGGCTATGTGAAATAGGAATGCAGTGCTTCAGAAAGAGCCTTCAGGGCCAGGCGCGGAGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACACCGTCTCTACTATAATACAAAAAATTTGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCGGCTACCTAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGGTTGCCCCACCGCACTCCAGCCTGTGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAAAAGAGAGAAAGAAAGAGAGAGAGAGAAAGAAAAAGGGAAGAAAGAAAGAAAGAGAGAGAAAGAAAGAAAGAGAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAAGAAAGAGAAAGAAAGAAAGAAAGAAAAAGAGACTTCGGGTTCAGCAACTTCTGCTTGCTTAATAAAAGAAAGAGGCTTTATTAGGGGGCTCCTGGCAAAATTGGGCAGCTGAAAAGATTGATAAATGCTCAGTAGCATGTGCAAAGAAAAAGCATCTATAGCCTTAATCTTAAAGGATGAGCGCCGGGAAGGAGGATATAGGAGTTCAAGCCCTGGGGAAGAAGCAGGTGTGGGCAGAGCAGGGGACCCTGAAAAAGATGGAAATGGTGGGAAGTTCTAAACTGGGAAAGAGGTTTGGCTGTCAGAGGAAAAATGCTGGGCCTTTTCCTCATCCAGATAGAGTGGTGACCCCAGATTTCCATGTGGTATTTCAGGGATCCCAACAAGCCGGTCCCCCAGGACACCAAGTTCATTCACACCAAGGCCAACCGCTTTGAGGAAGTGGCCTGGTCCAAATACAATCCCCGAGACCAGCTCTACCTTCACATCGGGCTGAAACCAAGGGTCCGAGATCATTACCGGGCCACTAAGGTGGCCTTTTGGAAACATCTGGTGCCCCACCTATACAACCTGCATGACATGTTCCACTATACGTCCACCACCACCAAAGTGCCGCCTCCGGATACCACCCACAGCTCCCACATCACCCGCAGGCCCAATGGCAAGACCTGGAGCACCAAGCGGCCAGCCATCTCACCTGCCTACAGCAACGAGAATGCCCAGGGGTCCTGGAACGGGGACCAGGATGCAGGGCCACTCCTGGTGGAGAACCCTCGTGACTACTCCACTGAATTAAGTGTCACCATCGCCGTGGGGGCCTCCCTCCTGTTCCTTAACGTTCTGGCCTTCGCTGCCCTCTACTACC
Task1_train_30292
This sequence change occurs on Chromosome X, altering GJB1 (gap junction protein beta 1). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Charcot-Marie-Tooth Neuropathy X
CTTGCAACTTAATGGCAGAAGTGGCAAGAGGTGGGAGAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAG
CTTGCAACTTAATGGCAGAAGTGGCAAGAGGTGGGAGAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGGTGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAG
Task1_train_30293
The gene GJB1 (gap junction protein beta 1) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1
CTTGCAACTTAATGGCAGAAGTGGCAAGAGGTGGGAGAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAG
CTTGCAACTTAATGGCAGAAGTGGCAAGAGGTGGGAGAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGGTGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAG
Task1_train_30294
Here’s a variant in GJB1 (gap junction protein beta 1) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Charcot-Marie-Tooth Neuropathy X
TTGCAACTTAATGGCAGAAGTGGCAAGAGGTGGGAGAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGG
TTGCAACTTAATGGCAGAAGTGGCAAGAGGTGGGAGAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGACGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGG
Task1_train_30295
This mutation occurs in GJB1 (gap junction protein beta 1) on Chromosome X. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Charcot-Marie-Tooth Neuropathy X
TGCAACTTAATGGCAGAAGTGGCAAGAGGTGGGAGAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGA
TGCAACTTAATGGCAGAAGTGGCAAGAGGTGGGAGAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATCAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGA
Task1_train_30296
A variant found in Chromosome X affects GJB1 (gap junction protein beta 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Charcot-Marie-Tooth Neuropathy X
GAGAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCAC
GAGAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGACGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCAC
Task1_train_30297
Chromosome X houses a mutation in gene GJB1 (gap junction protein beta 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1
GAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACAC
GAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCTTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACAC
Task1_train_30298
A change on Chromosome X affects gene GJB1 (gap junction protein beta 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Charcot-Marie-Tooth Neuropathy X
TTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCA
TTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACTGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCA
Task1_train_30299
The gene GJB1 (gap junction protein beta 1) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1
TTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCA
TTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACTGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCA